V50A (p.Val50Ala) variant of PARK7 (Parkinson disease protein 7)
V50A (p.Val50Ala) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V50A (p.Val50Ala) variant details
- p.Val50Ala
- gnomAD 1-7965382-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.50
- MetaLR 0.36
- MetaSVM -0.32
- CADD 22.30
- PolyPhen-2 0.26
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available