Is FAU p.Ala35Asp (c.104C>A) pathogenic?

FAU p.Ala35Asp (c.104C>A) is classified Uncertain significance in FAU (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-30). Absent from gnomAD v4.1.

How common is FAU p.Ala35Asp (c.104C>A) in the general population?

FAU p.Ala35Asp (c.104C>A) is absent from gnomAD v4.1 (gnomAD).

FAU p.Ala35Asp

c.104C>A · VCV4255326

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.365	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.6	GERP 1.3, phastCons 1
Regional constraint	o/e 0.96	unconstrained · MANE · 307 bp · p 0.73 · regional, not allelic
Overall
CADD	23.2	PHRED · no single calibrated threshold — expert panels disagree

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: FAU
Protein: p.Ala35Asp
Coding: c.104C>A
MANE Select: NM_001997
Type: single nucleotide variant
Location: chr11:65121616 (GRCh38)
Gene constraint: LOEUF 0.196 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 91.30 · 202 PDB
Residue 35: the ubiquitin-like domain

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

Similar variants

FAU p.Ala7Gly Uncertain significance ★ same type
FAU p.Arg114Gln Uncertain significance ★ same type
FAU p.Asn113His Uncertain significance ★ same type
FAU p.Glu60Asp Uncertain significance ★ same type
FAU p.Gly104Ser Uncertain significance ★ same type
FAU p.Lys102Thr Uncertain significance ★ same type
FAU p.Pro36Leu Uncertain significance ★ same type
FAU p.Thr12Ile Uncertain significance ★ 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/fau-p-ala35asp (accessed [today's date]).

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