T103S (p.Thr103Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
T103S (p.Thr103Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T103S (p.Thr103Ser) variant details
- p.Thr103Ser
- ESP rs369883704
- TOPMed rs369883704
- gnomAD rs369883704
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 7.53
- PolyPhen-2 0.00
- SIFT 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available