A122S (p.Ala122Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
A122S (p.Ala122Ser) 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.
A122S (p.Ala122Ser) variant details
- p.Ala122Ser
- rs1209617628
- ClinGen CA352748267
- ClinVar RCV002824550
- Uncertain significance
- not provided
- Missense
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance