V50L (p.Val50Leu) variant of PARK7 (Parkinson disease protein 7)
V50L (p.Val50Leu) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- gnomAD rs1640303219
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.42
- CADD 23.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available