S47L (p.Ser47Leu) variant of COL7A1 (Collagen alpha-1(VII) chain)
S47L (p.Ser47Leu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
S47L (p.Ser47Leu) variant details
- p.Ser47Leu
- rs1201768818
- TOPMed rs1201768818
- gnomAD rs1201768818
- Uncertain significance
- not specified
- Missense
- CADD 32.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)