S5C (p.Ser5Cys) variant of PKD2 (Polycystin-2)
S5C (p.Ser5Cys) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 4-88007746-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available