V323A (p.Val323Ala) variant of KRT5 (Keratin, type II cytoskeletal 5)
V323A (p.Val323Ala) 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 not provided; Epidermolysis bullosa simplex 2B, generalized intermediate; Epider. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
V323A (p.Val323Ala) variant details
- p.Val323Ala
- rs59840738
- ClinGen CA216797
- ClinVar RCV000056646
- ClinVar RCV004786331
- Pathogenic
- not provided; Epidermolysis bullosa simplex 2B, generalized intermediate; Epider
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa simplex 2B, generalized inte)
- EBI: Pathogenic (in EBS2B)
- UniProt: Pathogenic (in EBS2B)
- 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)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)