R27K (p.Arg27Lys) variant of PARK7 (Parkinson disease protein 7)
R27K (p.Arg27Lys) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- ExAC rs769681126
- gnomAD rs769681126
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.47
- CADD 25.60
- PolyPhen-2 0.32
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available