K68R (p.Lys68Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
K68R (p.Lys68Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
K68R (p.Lys68Arg) variant details
- p.Lys68Arg
- rs2526236880
- ClinGen CA341168639
- ClinVar RCV002999435
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- ESM-1b 0.89
- AlphaMissense 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available