A49G (p.Ala49Gly) variant of COL6A1 (Collagen alpha-1(VI) chain)
A49G (p.Ala49Gly) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- gnomAD 21-45982682-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.72
- MetaLR 0.55
- MetaSVM -0.01
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available