G25A (p.Gly25Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G25A (p.Gly25Ala) 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 0.41 / 1. The record also includes population frequency data and structural context.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- rs1940368906
- ClinGen CA384528180
- ClinVar RCV001894948
- TOPMed rs1940368906
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.09
- MetaLR 0.44
- MetaSVM -0.54
- PolyPhen-2 0.01
- SIFT 0.65
- MutPred 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available