L38V (p.Leu38Val) variant of PARK7 (Parkinson disease protein 7)
L38V (p.Leu38Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- TOPMed rs1640301603
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.38
- CADD 10.80
- PolyPhen-2 0.23
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available