T16S (p.Thr16Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
T16S (p.Thr16Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- ExAC rs752079706
- TOPMed rs752079706
- gnomAD rs752079706
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.46
- CADD 22.80
- PolyPhen-2 0.19
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available