P107Q (p.Pro107Gln) variant of COL11A1 (Collagen alpha-1(XI) chain)
P107Q (p.Pro107Gln) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P107Q (p.Pro107Gln) variant details
- p.Pro107Gln
- gnomAD rs1443536213
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 27.20
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available