P34S (p.Pro34Ser) variant of PINK1 (Q9BXM7)
P34S (p.Pro34Ser) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- gnomAD 1-20633648-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.04
- CADD 15.30
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available