A37V (p.Ala37Val) variant of PINK1 (Q9BXM7)
A37V (p.Ala37Val) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- TOPMed rs2053015747
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.13
- CADD 14.60
- PolyPhen-2 0.05
- SIFT 0.65
- Population evidence available
- Structural context available