T78S (p.Thr78Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
T78S (p.Thr78Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes structural context.
T78S (p.Thr78Ser) variant details
- p.Thr78Ser
- Ensembl rs1214053621
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available