Is FAAH p.Ser32Ala (c.94T>G) pathogenic?

FAAH p.Ser32Ala (c.94T>G) is classified Uncertain significance in FAAH (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-08). AlphaMissense: likely benign (0.0725); Absent from gnomAD v4.1.

How common is FAAH p.Ser32Ala (c.94T>G) in the general population?

FAAH p.Ser32Ala (c.94T>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about FAAH p.Ser32Ala (c.94T>G)?

AlphaMissense predicts likely benign (score 0.0725) — an in-silico prediction, not a clinical call.

FAAH p.Ser32Ala

c.94T>G · rs2522791668 · VCV2246121

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0725 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0725	likely benign
REVEL	0.057	moderately benign-leaning
SaProt	LLR -4.13	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.7	GERP -1.7, phastCons 1
Regional constraint	o/e 0.90	unconstrained · MANE · 19 kb · p 0.0063 · regional, not allelic
Overall
CADD	12.39	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: FAAH
Protein: p.Ser32Ala
Coding: c.94T>G
MANE Select: NM_001441
dbSNP: rs2522791668
Type: single nucleotide variant
Location: chr1:46394442 (GRCh38)
Gene constraint: LOEUF 1.147 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 95.44

Full FAAH gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

FAAH c.1316+3A>G Benign ★★ same type
FAAH p.Ala356Val Benign ★★ same type
FAAH p.Ala476Gly Benign ★★ same type
FAAH p.Arg439= Benign ★★ same type
FAAH p.Gly544= Benign ★★ same type
FAAH p.Leu426= Benign ★★ same type
FAAH p.Lys263= Benign ★★ same type
FAAH p.Pro129Thr Benign/Likely benign ★★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/faah-p-ser32ala (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown