E98V (p.Glu98Val) variant of MEFV (Pyrin)
E98V (p.Glu98Val) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E98V (p.Glu98Val) variant details
- p.Glu98Val
- TOPMed rs1959092427
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.31
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -1.07
- CADD 21.20
- PolyPhen-2 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available