G35A (p.Gly35Ala) variant of PINK1 (Q9BXM7)
G35A (p.Gly35Ala) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- gnomAD 1-20633652-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.27
- CADD 22.10
- PolyPhen-2 0.62
- SIFT 0.25
- Most common in the South Asian population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available