R12Q (p.Arg12Gln) variant of COL11A1 (Collagen alpha-1(XI) chain)
R12Q (p.Arg12Gln) 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 Inborn genetic diseases; not specified; COL11A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- rs767496065
- ClinGen CA975588
- ClinVar RCV001596177
- ClinVar RCV003161150
- Conflicting interpretations
- Inborn genetic diseases; not specified; COL11A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.17
- MetaSVM -0.82
- CADD 25.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; COL11A1-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)