A122T (p.Ala122Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
A122T (p.Ala122Thr) 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.
A122T (p.Ala122Thr) variant details
- p.Ala122Thr
- rs1209617628
- ClinGen CA352748273
- ClinVar RCV001998790
- gnomAD rs1209617628
- Uncertain significance
- not provided
- Missense
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)