N50S (p.Asn50Ser) variant of PKD1 (Polycystin-1)
N50S (p.Asn50Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- gnomAD rs1315364389
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available