D43N (p.Asp43Asn) variant of COL6A1 (Collagen alpha-1(VI) chain)
D43N (p.Asp43Asn) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- gnomAD 21-45982663-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.93
- MetaLR 0.95
- MetaSVM 1.11
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available