A428V (p.Ala428Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
A428V (p.Ala428Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
A428V (p.Ala428Val) variant details
- p.Ala428Val
- rs59243757
- ClinGen CA216650
- ClinVar RCV000056548
- ClinVar RCV001352782
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.97
- MetaLR 0.68
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)