D466H (p.Asp466His) variant of CLCN5 (P51795)
D466H (p.Asp466His) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dent disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
D466H (p.Asp466His) variant details
- p.Asp466His
- rs1569540369
- ClinGen CA413186001
- ClinVar RCV000714293
- Ensembl rs1569540369
- Pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.79
- MetaLR 0.81
- MetaSVM 0.78
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.42
- ClinVar: Pathogenic (Dent disease type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)