R5G (p.Arg5Gly) variant of COL6A1 (Collagen alpha-1(VI) chain)
R5G (p.Arg5Gly) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD 21-45981863-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.16
- MetaLR 0.38
- MetaSVM -0.72
- CADD 6.65
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available