T118N (p.Thr118Asn) variant of COL6A3 (Collagen alpha-3(VI) chain)
T118N (p.Thr118Asn) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
T118N (p.Thr118Asn) variant details
- p.Thr118Asn
- ExAC rs756436846
- gnomAD rs756436846
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.77
- MetaLR 0.86
- MetaSVM 0.77
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available