V7A (p.Val7Ala) variant of KRT5 (Keratin, type II cytoskeletal 5)
V7A (p.Val7Ala) 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 2B, generalized intermediate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- rs121912474
- ClinGen CA257295
- ClinVar RCV001731296
- TOPMed rs121912474
- Pathogenic
- Epidermolysis bullosa simplex 2B, generalized intermediate
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.37
- MetaLR 0.16
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.13
- MutPred 0.28
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 2B, generalized intermediate)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. (PMID 9740251)