K11E (p.Lys11Glu) variant of COL11A1 (Collagen alpha-1(XI) chain)
K11E (p.Lys11Glu) 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 0.20 / 1. The record also includes population frequency data and structural context.
K11E (p.Lys11Glu) variant details
- p.Lys11Glu
- rs773297282
- ClinGen CA975589
- ClinVar RCV003442473
- ExAC rs773297282
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available