T22K (p.Thr22Lys) variant of PINK1 (Q9BXM7)
T22K (p.Thr22Lys) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T22K (p.Thr22Lys) variant details
- p.Thr22Lys
- gnomAD 1-20633613-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.10
- CADD 17.40
- PolyPhen-2 0.07
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available