D328V (p.Asp328Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
D328V (p.Asp328Val) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.84 / 1. The record also includes published literature and structural context.
D328V (p.Asp328Val) variant details
- p.Asp328Val
- rs57142010
- ClinGen CA216806
- ClinVar RCV000056654
- ClinVar RCV001352780
- Pathogenic
- Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Structural context available
- Cited in: Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (PMID 21623745)
- Cited in: Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12… (PMID 8595431)