A28T (p.Ala28Thr) variant of PINK1 (Q9BXM7)
A28T (p.Ala28Thr) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- Ensembl rs2053015233
- Missense
- Variant Prioritization Score for Impact Estimate 0.0923
- REVEL 0.07
- CADD 1.87
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available