G25S (p.Gly25Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G25S (p.Gly25Ser) 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 0.43 / 1. The record also includes structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- rs1940369024
- ClinGen CA384528187
- ClinVar RCV001347380
- TOPMed rs1940369024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.08
- MetaLR 0.49
- MetaSVM -0.51
- PolyPhen-2 0.00
- SIFT 0.17
- MutPred 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available