G13A (p.Gly13Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
G13A (p.Gly13Ala) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- rs2045990762
- ClinGen CA352750499
- ClinVar RCV002800083
- TOPMed rs2045990762
- Uncertain significance
- not provided
- Missense
- CADD 10.40
- PolyPhen-2 0.07
- SIFT 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)