R15Q (p.Arg15Gln) variant of PINK1 (Q9BXM7)
R15Q (p.Arg15Gln) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- gnomAD 1-20633592-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.36
- CADD 25.40
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available