P2S (p.Pro2Ser) variant of PKD1 (Polycystin-1)
P2S (p.Pro2Ser) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- cosmic curated COSV10877
- TOPMed rs2092942106
- gnomAD rs2092942106
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.40
- PolyPhen-2 0.08
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 4.6e-05)
- Structural context available