A6V (p.Ala6Val) variant of PINK1 (Q9BXM7)
A6V (p.Ala6Val) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- TOPMed rs1038480938
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.16
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 6)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00038)
- Structural context available