FAAH2 p.Arg293=
c.877A>C · rs202011260 · VCV2660719
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0745%, 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 2.4 | phastCons 0.88 |
| Overall | ||
| CADD | 10.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0745%
East Asian · 25/33,545 alleles
Filtering AF
0.0518%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0442%
Overall
0.00383%
46/1,202,045 alleles · ultra-rare
exomes 38/1,090,827 · genomes 8/111,218 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0745% | 1,342 |
| South Asian | 0.0179% | 5,584 |
| Remaining individualsnot grpmax-eligible | 0.00423% | 23,647 |
| European (non-Finnish) | 0.00101% | 98,979 |
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.Arg293=
- Coding
- c.877A>C
- MANE Select
- NM_174912
- dbSNP
- rs202011260
- Type
- single nucleotide variant
- Location
- chrX:57378785 (GRCh38)
- Structure
- AlphaFold pLDDT 94.08
Similar variants
- FAAH2 c.1229-14A>T Benign ★★ same type
- FAAH2 p.Arg274= 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
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-arg293 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown