I104T (p.Ile104Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
I104T (p.Ile104Thr) 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 provided. The record also includes variant effect predictions and population frequency data.
I104T (p.Ile104Thr) variant details
- p.Ile104Thr
- TOPMed rs2045868882
- Uncertain significance
- not provided
- Missense
- CADD 25.20
- PolyPhen-2 0.76
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)