R6C (p.Arg6Cys) variant of PKD2 (Polycystin-2)
R6C (p.Arg6Cys) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- gnomAD 4-88007749-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available