T19T (p.Thr19Thr) variant of COL3A1 (Collagen alpha-1(III) chain)
T19T (p.Thr19Thr) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T19T (p.Thr19Thr) variant details
- p.Thr19Thr
- gnomAD 2-188974546-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 13.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available