S4F (p.Ser4Phe) variant of PKD2 (Polycystin-2)
S4F (p.Ser4Phe) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- gnomAD 4-88007744-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.05
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available