Y604N (p.Tyr604Asn) variant of CLCN5 (P51795)
Y604N (p.Tyr604Asn) 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 0.92 / 1. The record also includes published literature and structural context.
Y604N (p.Tyr604Asn) variant details
- p.Tyr604Asn
- rs1934039336
- ClinGen CA413188935
- ClinVar RCV001250478
- Ensembl rs1934039336
- Pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.82
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic (Dent disease type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)