R48H (p.Arg48His) variant of PARK7 (Parkinson disease protein 7)
R48H (p.Arg48His) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- rs145727915
- cosmic curated COSV58579
- ESP rs145727915
- ExAC rs145727915
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.48
- CADD 29.60
- PolyPhen-2 0.46
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available