D39N (p.Asp39Asn) variant of COL6A3 (Collagen alpha-3(VI) chain)
D39N (p.Asp39Asn) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.82
- MetaLR 0.89
- MetaSVM 1.00
- CADD 28.50
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available