A37S (p.Ala37Ser) variant of PINK1 (Q9BXM7)
A37S (p.Ala37Ser) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- gnomAD 1-20633657-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.09
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available