FAAH p.Pro477=
c.1431T>C · rs1048770401 · VCV745307
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0309%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.16 | GERP -0.22, phastCons 0.99 |
| Overall | ||
| CADD | 8.933 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0309%
Admixed American · 16/51,758 alleles
Filtering AF
0.0193%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0157%
Overall
0.00109%
17/1,556,792 alleles · ultra-rare
exomes 15/1,404,534 · genomes 2/152,258 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0309% | 3,235 |
| Remaining individualsnot grpmax-eligible | 0.00166% | 60,282 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- FAAH
- Protein
- p.Pro477=
- Coding
- c.1431T>C
- MANE Select
- NM_001441
- dbSNP
- rs1048770401
- Type
- single nucleotide variant
- Location
- chr1:46412217 (GRCh38)
- Gene constraint
- LOEUF 1.147 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.44
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-pro477 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown