M119V (p.Met119Val) variant of KRT14 (Keratin, type I cytoskeletal 14)
M119V (p.Met119Val) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Dermatopathia pigmentosa reticularis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
M119V (p.Met119Val) variant details
- p.Met119Val
- rs61263401
- ClinGen CA216899
- ClinVar RCV000056707
- ClinVar RCV001778697
- Pathogenic/Likely pathogenic
- not provided; Dermatopathia pigmentosa reticularis
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (not provided; Dermatopathia pigmentosa reticularis)
- EBI: Pathogenic (in EBS1B and EBS1C)
- UniProt: Pathogenic (in EBS1B and EBS1C)
- Structural context available
- Cited in: Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. (PMID 11710919)
- Cited in: Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PMID 16882168)