R20S (p.Arg20Ser) variant of PINK1 (Q9BXM7)
R20S (p.Arg20Ser) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- gnomAD 1-20633606-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available