N101D (p.Asn101Asp) variant of PKD1 (Polycystin-1)
N101D (p.Asn101Asp) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
N101D (p.Asn101Asp) variant details
- p.Asn101Asp
- rs2092684149
- ClinGen CA394396026
- ClinVar RCV001095576
- ClinVar RCV001292325
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.80
- MetaLR 0.96
- MetaSVM 1.07
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)