R30C (p.Arg30Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
R30C (p.Arg30Cys) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Epidermolysis bullosa simplex 1D, generalized, intermediate or sev. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- rs201069984
- ClinGen CA216988
- ClinVar RCV000056756
- ClinVar RCV000714552
- Conflicting interpretations
- not provided; Epidermolysis bullosa simplex 1D, generalized, intermediate or sev
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.34
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Epidermolysis bullosa simplex 1D, generalized, int)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BALOCHI population (allele frequency 0.043)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)