A16T (p.Ala16Thr) variant of PINK1 (Q9BXM7)
A16T (p.Ala16Thr) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD 1-20633594-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.26
- CADD 25.70
- PolyPhen-2 0.55
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available