T14S (p.Thr14Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
T14S (p.Thr14Ser) 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 0.39 / 1. The record also includes structural context.
T14S (p.Thr14Ser) variant details
- p.Thr14Ser
- rs1940370196
- ClinGen CA384528312
- ClinVar RCV001247688
- Ensembl rs1940370196
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 0.28
- MutPred 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available