L13M (p.Leu13Met) variant of PINK1 (Q9BXM7)
L13M (p.Leu13Met) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD rs2053013403
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.29
- CADD 24.40
- PolyPhen-2 0.88
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available