Y129D (p.Tyr129Asp) variant of KRT14 (Keratin, type I cytoskeletal 14)
Y129D (p.Tyr129Asp) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
Y129D (p.Tyr129Asp) variant details
- p.Tyr129Asp
- rs60470268
- ClinGen CA216931
- ClinVar RCV000056724
- ClinVar RCV001352937
- Pathogenic
- Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS1A)
- UniProt: Pathogenic (in EBS1A)
- Structural context available
- Cited in: Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients… (PMID 26432462)
- Cited in: Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. (PMID 8601736)