V51L (p.Val51Leu) variant of MEFV (Pyrin)
V51L (p.Val51Leu) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V51L (p.Val51Leu) variant details
- p.Val51Leu
- gnomAD rs1234329505
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available