G10R (p.Gly10Arg) variant of PINK1 (Q9BXM7)
G10R (p.Gly10Arg) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- TOPMed rs2053013114
- gnomAD rs2053013114
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.51
- CADD 29.70
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.7e-05)
- Structural context available