FAAH2 p.Arg274=
c.822T>C · rs4826543 · VCV1223239
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 100%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.02 | phastCons 0.66 |
| Overall | ||
| CADD | 1.045 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
100%
East Asian · 33,610/33,610 alleles
Filtering AF
99.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 99.7%
Overall
98.6%
1,190,883/1,207,348 alleles · common
exomes 1,089,405/1,097,789 · genomes 101,478/109,559 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 100% | 1 |
| Finnishnot grpmax-eligible | 100% | 1 |
| Amishnot grpmax-eligible | 100% | 1 |
| European (non-Finnish) | 100% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 99.9% | 1 |
| South Asian | 99.9% | 1 |
| Middle Eastern | 98.9% | 1 |
| Admixed American | 98.4% | 1 |
| Remaining individualsnot grpmax-eligible | 98.1% | 1 |
| African / African-American | 74.4% | 1 |
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
- FAAH2
- Protein
- p.Arg274=
- Coding
- c.822T>C
- MANE Select
- NM_174912
- dbSNP
- rs4826543
- Type
- single nucleotide variant
- Location
- chrX:57378730 (GRCh38)
- Structure
- AlphaFold pLDDT 94.08
Similar variants
- FAAH2 c.1229-14A>T Benign ★★ same type
- FAAH2 p.Arg42Trp Benign ★★ same type
- FAAH2 p.Pro468= Benign ★★ same type
- FAAH2 c.742+5T>A Uncertain significance ★ same type
- FAAH2 p.Ala115Val Uncertain significance ★ ⚠ same type
- FAAH2 p.Ala157Asp Uncertain significance ★ ⚠ same type
- FAAH2 p.Ala161Thr Uncertain significance ★ ⚠ same type
- FAAH2 p.Ala168Gly 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/faah2-p-arg274 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown