G10S (p.Gly10Ser) variant of PINK1 (Q9BXM7)
G10S (p.Gly10Ser) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- TOPMed rs2053013114
- gnomAD rs2053013114
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.43
- CADD 25.50
- PolyPhen-2 0.66
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available