N101K (p.Asn101Lys) variant of PKD1 (Polycystin-1)
N101K (p.Asn101Lys) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Polycystic kidney disease, adult type; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N101K (p.Asn101Lys) variant details
- p.Asn101Lys
- rs2092684130
- ClinGen CA394396015
- ClinVar RCV001198548
- ClinVar RCV001751364
- Uncertain significance
- not provided; Polycystic kidney disease, adult type; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.74
- MetaLR 0.96
- MetaSVM 0.96
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Polycystic kidney disease, adult type; not specifi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)