G107A (p.Gly107Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G107A (p.Gly107Ala) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
G107A (p.Gly107Ala) variant details
- p.Gly107Ala
- rs1940054684
- ClinGen CA384525386
- ClinVar RCV001315103
- Ensembl rs1940054684
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.71
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available