M1T (p.Met1Thr) variant of CLDN10 (Claudin-10)
M1T (p.Met1Thr) 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 0.93 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs930701747
- ClinGen CA388477628
- ClinVar RCV000505532
- Pathogenic
- HELIX syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- MetaLR 0.90
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic (HELIX syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. (PMID 28771254)