S4P (p.Ser4Pro) variant of PKD2 (Polycystin-2)
S4P (p.Ser4Pro) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- gnomAD 4-88007743-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.09
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available