A36V (p.Ala36Val) variant of PARK7 (Parkinson disease protein 7)
A36V (p.Ala36Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- gnomAD rs1006337652
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.49
- CADD 25.60
- PolyPhen-2 0.85
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available