T49N (p.Thr49Asn) variant of COL6A3 (Collagen alpha-3(VI) chain)
T49N (p.Thr49Asn) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T49N (p.Thr49Asn) variant details
- p.Thr49Asn
- 1000Genomes rs200025389
- ExAC rs200025389
- TOPMed rs200025389
- gnomAD rs200025389
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.89
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available