A106V (p.Ala106Val) variant of MEFV (Pyrin)
A106V (p.Ala106Val) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A106V (p.Ala106Val) variant details
- p.Ala106Val
- Ensembl rs2141677764
- Missense
- Variant Prioritization Score for Impact Estimate 0.0577
- REVEL 0.06
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available