T16T (p.Thr16Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
T16T (p.Thr16Thr) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T16T (p.Thr16Thr) variant details
- p.Thr16Thr
- rs780687409
- gnomAD 7-94395079-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.39
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available