D45N (p.Asp45Asn) variant of COL6A3 (Collagen alpha-3(VI) chain)
D45N (p.Asp45Asn) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- Ensembl rs2106388853
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.86
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available