P43R (p.Pro43Arg) variant of PARK7 (Parkinson disease protein 7)
P43R (p.Pro43Arg) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P43R (p.Pro43Arg) variant details
- p.Pro43Arg
- gnomAD 1-7965361-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.57
- MetaLR 0.46
- MetaSVM -0.37
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available