T16N (p.Thr16Asn) variant of COL1A2 (Collagen alpha-2(I) chain)
T16N (p.Thr16Asn) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- ExAC rs752079706
- TOPMed rs752079706
- gnomAD rs752079706
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.46
- CADD 23.50
- PolyPhen-2 0.52
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available