A28V (p.Ala28Val) variant of PINK1 (Q9BXM7)
A28V (p.Ala28Val) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- Ensembl rs2053015285
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.08
- CADD 1.50
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 4.4e-05)
- Structural context available