MEFV p.Ala165=
c.495C>T · rs224223 · VCV1270649
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00231%, 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 0.52 | GERP -0.59 |
| Overall | ||
| CADD | 3.723 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00231%
East Asian · 1/43,372 alleles
Overall
6.34e-05%
1/1,578,244 alleles · very rare
exomes 1/1,426,184 · genomes 0/152,060 · joint denominator
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
- MEFV
- Protein
- p.Ala165=
- Coding
- c.495C>T
- MANE Select
- NM_000243
- dbSNP
- rs224223
- Type
- single nucleotide variant
- Location
- chr16:3254573 (GRCh38)
- Gene constraint
- LOEUF 1.147 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 73.64 · 11 PDB
- Residue 165
- the 'disordered' region
Similar variants
- MEFV p.Arg761His Pathogenic/Likely pathogenic ★★ ⚠ same type
- MEFV p.Ser242Arg Pathogenic/Likely pathogenic ★★ same type
- MEFV p.Val726Ala Pathogenic/Likely pathogenic ★★ ⚠ same type
- MEFV c.*845C>T Uncertain significance ★★ same type
- MEFV p.Ala193Thr Uncertain significance ★★ ⚠ same type
- MEFV p.Ala2Gly Uncertain significance ★★ ⚠ same type
- MEFV p.Ala416Thr Uncertain significance ★★ ⚠ same type
- MEFV p.Ala744Thr 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/mefv-p-ala165 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown