T29T (p.Thr29Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
T29T (p.Thr29Thr) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T29T (p.Thr29Thr) variant details
- p.Thr29Thr
- rs1801182
- gnomAD 7-94398387-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 14.10
- Population evidence available
- Structural context available
- Cited in: No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in… (PMID 21602843)