Q81R (p.Gln81Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
Q81R (p.Gln81Arg) 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 population frequency data and structural context.
Q81R (p.Gln81Arg) variant details
- p.Gln81Arg
- rs1672519599
- ClinGen CA341168502
- ClinVar RCV002297417
- gnomAD rs1672519599
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 27.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available