R56C (p.Arg56Cys) variant of KRT14 (Keratin, type I cytoskeletal 14)
R56C (p.Arg56Cys) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Epidermolysis bullosa simplex 1A, generalized severe; Dermatopathia pigmentosa r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- rs117484558
- ClinGen CA8562802
- ClinVar RCV000963160
- ClinVar RCV002489369
- Benign/Likely benign
- Epidermolysis bullosa simplex 1A, generalized severe; Dermatopathia pigmentosa r
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.38
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Benign/Likely benign (Epidermolysis bullosa simplex 1A, generalized severe; Dermatopat)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)