V17M (p.Val17Met) variant of MEFV (Pyrin)
V17M (p.Val17Met) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- gnomAD rs1206802336
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available