T16N (p.Thr16Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
T16N (p.Thr16Asn) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- ExAC rs748926402
- gnomAD rs748926402
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.50
- CADD 28.90
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available