G38E (p.Gly38Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G38E (p.Gly38Glu) 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 0.44 / 1. The record also includes structural context.
G38E (p.Gly38Glu) variant details
- p.Gly38Glu
- rs1010211097
- ClinGen CA384526724
- ClinVar RCV003063856
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.23
- MetaLR 0.48
- MetaSVM 0.03
- PolyPhen-2 0.14
- SIFT 0.01
- MutPred 0.89
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available