S5I (p.Ser5Ile) variant of PKD2 (Polycystin-2)
S5I (p.Ser5Ile) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- gnomAD 4-88007747-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- CADD 18.70
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available