G8S (p.Gly8Ser) variant of PINK1 (Q9BXM7)
G8S (p.Gly8Ser) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- TOPMed rs2053013079
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.07
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.70
- Most common in the African/African-American population (allele frequency 4.7e-05)
- Structural context available