I18F (p.Ile18Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)
I18F (p.Ile18Phe) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I18F (p.Ile18Phe) variant details
- p.Ile18Phe
- gnomAD 21-46111528-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.19
- CADD 8.52
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available