V44L (p.Val44Leu) variant of PARK7 (Parkinson disease protein 7)
V44L (p.Val44Leu) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- TOPMed rs1640302275
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.71
- CADD 26.30
- PolyPhen-2 0.70
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available