FAAH p.Lys263=
c.789G>A · rs72480613 · VCV721205
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.15%, eas)
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 2.1 | GERP -0.6, phastCons 1 |
| Overall | ||
| CADD | 7.269 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.15%
East Asian · 964/44,876 alleles
Filtering AF
2.04%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.99%
Overall
0.261%
4,213/1,614,220 alleles · low-frequency
exomes 3,207/1,461,870 · genomes 1,006/152,350 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 2.15% | 47 |
| African / African-American | 1.89% | 53 |
| South Asian | 1.32% | 76 |
| Middle Eastern | 0.643% | 155 |
| Ashkenazi Jewishnot grpmax-eligible | 0.419% | 239 |
| Remaining individualsnot grpmax-eligible | 0.406% | 246 |
| Admixed American | 0.153% | 653 |
| European (non-Finnish) | 0.00991% | 10,086 |
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.Lys263=
- Coding
- c.789G>A
- MANE Select
- NM_001441
- dbSNP
- rs72480613
- Type
- single nucleotide variant
- Location
- chr1:46406041 (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.Pro129Thr Benign/Likely benign ★★ ⚠ same type
- FAAH p.Pro231= 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-lys263 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown