S99Y (p.Ser99Tyr) variant of COL7A1 (Collagen alpha-1(VII) chain)
S99Y (p.Ser99Tyr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
S99Y (p.Ser99Tyr) variant details
- p.Ser99Tyr
- TOPMed rs1376226075
- gnomAD rs1376226075
- Missense
- CADD 24.90
- Most common in the REMAINING population (allele frequency 0.00048)