K65R (p.Lys65Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
K65R (p.Lys65Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K65R (p.Lys65Arg) variant details
- p.Lys65Arg
- rs200396868
- ClinGen CA975531
- ClinVar RCV001763950
- 1000Genomes rs200396868
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available