K63R (p.Lys63Arg) variant of PARK7 (Parkinson disease protein 7)
K63R (p.Lys63Arg) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K63R (p.Lys63Arg) variant details
- p.Lys63Arg
- ExAC rs767015117
- gnomAD rs767015117
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.14
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available