E22V (p.Glu22Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
E22V (p.Glu22Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E22V (p.Glu22Val) variant details
- p.Glu22Val
- gnomAD 21-45981915-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.17
- MetaLR 0.40
- MetaSVM -0.61
- CADD 1.51
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available