K108R (p.Lys108Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
K108R (p.Lys108Arg) 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 0.39 / 1. The record also includes population frequency data and structural context.
K108R (p.Lys108Arg) variant details
- p.Lys108Arg
- rs1173736609
- ClinGen CA341167988
- ClinVar RCV001924717
- gnomAD rs1173736609
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available