R53G (p.Arg53Gly) variant of COL2A1 (Collagen alpha-1(II) chain)
R53G (p.Arg53Gly) in COL2A1 (Collagen alpha-1(II) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- rs776744207
- ClinGen CA6536084
- ClinVar RCV001297636
- ClinVar RCV005802096
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.45
- CADD 24.30
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)