D42H (p.Asp42His) variant of PARK7 (Parkinson disease protein 7)
D42H (p.Asp42His) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D42H (p.Asp42His) variant details
- p.Asp42His
- gnomAD 1-7965357-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.33
- MetaLR 0.42
- MetaSVM -0.43
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available