L56V (p.Leu56Val) variant of MEFV (Pyrin)
L56V (p.Leu56Val) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- rs1353284079
- TOPMed rs1353284079
- Uncertain significance
- Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial Mediterranean fever, autosomal dominant; Acute febrile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available