L7M (p.Leu7Met) variant of PINK1 (Q9BXM7)
L7M (p.Leu7Met) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- TOPMed rs1347237673
- gnomAD rs1347237673
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.26
- CADD 26.60
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available