A90V (p.Ala90Val) variant of MEFV (Pyrin)
A90V (p.Ala90Val) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- ESP rs370801391
- ExAC rs370801391
- TOPMed rs370801391
- gnomAD rs370801391
- Missense
- Variant Prioritization Score for Impact Estimate 0.0929
- REVEL 0.07
- CADD 1.17
- PolyPhen-2 0.01
- SIFT 0.88
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available