R20P (p.Arg20Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
R20P (p.Arg20Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
R20P (p.Arg20Pro) variant details
- p.Arg20Pro
- rs755340663
- ClinGen CA2381674
- ClinVar RCV000263342
- ClinVar RCV000944574
- Likely benign
- Missense
- CADD 20.10
- PolyPhen-2 0.11
- SIFT 0.27
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0055)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)