A49V (p.Ala49Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
A49V (p.Ala49Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD 21-45982682-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.78
- MetaLR 0.69
- MetaSVM 0.46
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available