I49T (p.Ile49Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
I49T (p.Ile49Thr) 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.
I49T (p.Ile49Thr) variant details
- p.Ile49Thr
- rs1481032900
- ClinGen CA352749735
- ClinVar RCV003107283
- TOPMed rs1481032900
- Uncertain significance
- not provided
- Missense
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)