R37Q (p.Arg37Gln) variant of KRT5 (Keratin, type II cytoskeletal 5)
R37Q (p.Arg37Gln) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Dowling-Degos disease 1; Epidermolysis bullosa simplex with migratory circinate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs61747181
- ClinGen CA6582927
- ClinVar RCV000307467
- ClinVar RCV000897081
- Benign/Likely benign
- Dowling-Degos disease 1; Epidermolysis bullosa simplex with migratory circinate
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Benign/Likely benign (Dowling-Degos disease 1; Epidermolysis bullosa simplex with migr)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.074)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)