K12R (p.Lys12Arg) variant of PARK7 (Parkinson disease protein 7)
K12R (p.Lys12Arg) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- gnomAD 1-7962820-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available