S59R (p.Ser59Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
S59R (p.Ser59Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
S59R (p.Ser59Arg) variant details
- p.Ser59Arg
- rs200674956
- ClinGen CA2381626
- ClinVar RCV001867812
- 1000Genomes rs200674956
- Likely benign
- not provided
- Missense
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.005)