P12S (p.Pro12Ser) variant of PKD2 (Polycystin-2)
P12S (p.Pro12Ser) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD 4-88007767-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.11
- CADD 18.80
- PolyPhen-2 0.23
- SIFT 0.19
- Most common in the South Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available