K109N (p.Lys109Asn) variant of COL11A1 (Collagen alpha-1(XI) chain)
K109N (p.Lys109Asn) 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 0.72 / 1. The record also includes structural context.
K109N (p.Lys109Asn) variant details
- p.Lys109Asn
- rs2526189733
- ClinGen CA341167976
- ClinVar RCV003684067
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- ESM-1b 1.00
- AlphaMissense 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available