G30V (p.Gly30Val) variant of PINK1 (Q9BXM7)
G30V (p.Gly30Val) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- Ensembl rs1570396903
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.04
- CADD 14.00
- PolyPhen-2 0.08
- SIFT 0.10
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available