Q126K (p.Gln126Lys) variant of COL11A1 (Collagen alpha-1(XI) chain)
Q126K (p.Gln126Lys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
Q126K (p.Gln126Lys) variant details
- p.Gln126Lys
- cosmic curated COSV62175
- Ensembl rs1428096584
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- ESM-1b 1.00
- AlphaMissense 0.77
- Structural context available