D37N (p.Asp37Asn) variant of COL6A1 (Collagen alpha-1(VI) chain)
D37N (p.Asp37Asn) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- gnomAD 21-45982645-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.78
- MetaLR 0.98
- MetaSVM 1.06
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available