D103V (p.Asp103Val) variant of MEFV (Pyrin)
D103V (p.Asp103Val) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D103V (p.Asp103Val) variant details
- p.Asp103Val
- gnomAD rs1252082777
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.13
- CADD 0.27
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available