C53Y (p.Cys53Tyr) variant of PARK7 (Parkinson disease protein 7)
C53Y (p.Cys53Tyr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
C53Y (p.Cys53Tyr) variant details
- p.Cys53Tyr
- gnomAD 1-7965391-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.46
- MetaLR 0.34
- MetaSVM -0.57
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available