T103I (p.Thr103Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
T103I (p.Thr103Ile) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T103I (p.Thr103Ile) variant details
- p.Thr103Ile
- rs369883704
- ClinGen CA16040314
- ClinVar RCV000792473
- ESP rs369883704
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 9.64
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)