K301I (p.Lys301Ile) variant of CLCN5 (P51795)
K301I (p.Lys301Ile) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dent disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
K301I (p.Lys301Ile) variant details
- p.Lys301Ile
- rs782733541
- ClinVar RCV004595283
- Likely pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.53
- MetaLR 0.86
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Likely pathogenic (Dent disease type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)