R51C (p.Arg51Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R51C (p.Arg51Cys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and population frequency data.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- rs775852765
- NCI-TCGA Cosmic COSV5255
- ExAC rs775852765
- gnomAD rs775852765
- Likely pathogenic
- Missense
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)