T108I (p.Thr108Ile) variant of COL1A1 (Collagen alpha-1(I) chain)
T108I (p.Thr108Ile) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T108I (p.Thr108Ile) variant details
- p.Thr108Ile
- rs765837515
- ClinGen CA8645759
- ClinVar RCV001570925
- ClinVar RCV003631206
- Likely benign
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Likely benign (not provided; Osteogenesis imperfecta type I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)