A106T (p.Ala106Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
A106T (p.Ala106Thr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
A106T (p.Ala106Thr) variant details
- p.Ala106Thr
- rs752837490
- ExAC rs752837490
- TOPMed rs752837490
- gnomAD rs752837490
- Variant assessed as somatic; moderate impact.
- Missense
- AlphaMissense 0.11
- MetaLR 0.75
- MetaSVM 0.65
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5e-05)