L7V (p.Leu7Val) variant of PARK7 (Parkinson disease protein 7)
L7V (p.Leu7Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- Ensembl rs1640237155
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.66
- CADD 23.50
- PolyPhen-2 0.63
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available