V105E (p.Val105Glu) variant of COL11A1 (Collagen alpha-1(XI) chain)
V105E (p.Val105Glu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V105E (p.Val105Glu) variant details
- p.Val105Glu
- gnomAD rs1407636928
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 26.70
- Population evidence available
- Structural context available