G10V (p.Gly10Val) variant of PINK1 (Q9BXM7)
G10V (p.Gly10Val) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- gnomAD 1-20633577-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.31
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available