D42V (p.Asp42Val) variant of PARK7 (Parkinson disease protein 7)
D42V (p.Asp42Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D42V (p.Asp42Val) variant details
- p.Asp42Val
- TOPMed rs1234524912
- gnomAD rs1234524912
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available