A9T (p.Ala9Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
A9T (p.Ala9Thr) 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.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs982567193
- ClinGen CA73995108
- ClinVar RCV003077661
- gnomAD rs982567193
- Uncertain significance
- not provided
- Missense
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)