D64G (p.Asp64Gly) variant of COL6A3 (Collagen alpha-3(VI) chain)
D64G (p.Asp64Gly) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D64G (p.Asp64Gly) variant details
- p.Asp64Gly
- ExAC rs768274647
- gnomAD rs768274647
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.68
- AlphaMissense 0.17
- MetaLR 0.38
- MetaSVM -0.57
- CADD 22.80
- PolyPhen-2 0.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available