V67M (p.Val67Met) variant of MEFV (Pyrin)
V67M (p.Val67Met) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial Mediterranean fever; Familial Mediterranean fever, autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V67M (p.Val67Met) variant details
- p.Val67Met
- rs1422054832
- ClinGen CA394483782
- cosmic curated COSV10587
- ClinVar RCV001310311
- Conflicting interpretations
- not provided; Familial Mediterranean fever; Familial Mediterranean fever, autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.22
- CADD 21.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial Mediterranean fever; Familial Mediterrane)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)