V17L (p.Val17Leu) variant of MEFV (Pyrin)
V17L (p.Val17Leu) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- gnomAD rs1206802336
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.05
- CADD 12.00
- PolyPhen-2 0.07
- SIFT 0.39
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available