R331C (p.Arg331Cys) variant of KRT5 (Keratin, type II cytoskeletal 5)
R331C (p.Arg331Cys) 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 1C, localized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R331C (p.Arg331Cys) variant details
- p.Arg331Cys
- rs61297109
- ClinGen CA216815
- NCI-TCGA Cosmic COSV5286
- ClinVar RCV000056660
- Pathogenic
- not provided; Epidermolysis bullosa simplex 1C, localized
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.72
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.58
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa simplex 1C, localized)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. (PMID 7506097)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)