V105I (p.Val105Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
V105I (p.Val105Ile) in COL11A1 (Collagen alpha-1(XI) 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 and structural context.
V105I (p.Val105Ile) variant details
- p.Val105Ile
- gnomAD rs1284742042
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available