R105H (p.Arg105His) variant of COL7A1 (Collagen alpha-1(VII) chain)
R105H (p.Arg105His) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epidermolysis bullosa dystrophica; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
R105H (p.Arg105His) variant details
- p.Arg105His
- rs370534336
- ClinGen CA2381581
- ClinVar RCV001144773
- ClinVar RCV002557093
- Uncertain significance
- Epidermolysis bullosa dystrophica; not provided
- Missense
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Epidermolysis bullosa dystrophica; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)