I18L (p.Ile18Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
I18L (p.Ile18Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I18L (p.Ile18Leu) variant details
- p.Ile18Leu
- gnomAD 21-46111528-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.18
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available