I60T (p.Ile60Thr) variant of COL1A1 (Collagen alpha-1(I) chain)
I60T (p.Ile60Thr) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar 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 0.57 / 1. The record also includes population frequency data and structural context.
I60T (p.Ile60Thr) variant details
- p.Ile60Thr
- gnomAD rs1907931785
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 25.80
- PolyPhen-2 0.05
- SIFT 0.05
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available