I18V (p.Ile18Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
I18V (p.Ile18Val) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- TOPMed rs1407504586
- gnomAD rs1407504586
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.17
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available