N48K (p.Asn48Lys) variant of CLDN10 (Claudin-10)
N48K (p.Asn48Lys) in CLDN10 (Claudin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of HELIX syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- rs759408749
- ExAC rs759408749
- gnomAD rs759408749
- ClinGen CA388478762
- Pathogenic
- HELIX syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.83
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic (HELIX syndrome)
- EBI: Pathogenic (in HELIX)
- UniProt: Pathogenic (in HELIX)
- Population evidence available
- Structural context available
- Cited in: Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. (PMID 28686597)
- Cited in: Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. (PMID 28771254)