P41S (p.Pro41Ser) variant of PKD1 (Polycystin-1)
P41S (p.Pro41Ser) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- TOPMed rs1318734922
- gnomAD rs1318734922
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.01
- CADD 19.80
- PolyPhen-2 1.00
- SIFT 0.23
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available