P43Q (p.Pro43Gln) variant of PARK7 (Parkinson disease protein 7)
P43Q (p.Pro43Gln) 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 and structural context.
P43Q (p.Pro43Gln) variant details
- p.Pro43Gln
- gnomAD rs1640301985
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.50
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available