A2V (p.Ala2Val) variant of MEFV (Pyrin)
A2V (p.Ala2Val) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs200148051
- gnomAD rs200148051
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.15
- CADD 11.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available