N77S (p.Asn77Ser) variant of PKD1 (Polycystin-1)
N77S (p.Asn77Ser) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Polycystic kidney disease, adult type; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
N77S (p.Asn77Ser) variant details
- p.Asn77Ser
- rs2092686792
- ClinGen CA394396304
- ClinVar RCV001758197
- ClinVar RCV005006008
- Conflicting interpretations
- not specified; Polycystic kidney disease, adult type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.41
- MetaLR 0.60
- MetaSVM 0.40
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Polycystic kidney disease, adult type; not provid)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)