Y29H (p.Tyr29His) variant of PINK1 (Q9BXM7)
Y29H (p.Tyr29His) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Y29H (p.Tyr29His) variant details
- p.Tyr29His
- gnomAD 1-20633633-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.12
- CADD 13.90
- PolyPhen-2 0.10
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available