R53Q (p.Arg53Gln) variant of COL2A1 (Collagen alpha-1(II) chain)
R53Q (p.Arg53Gln) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- rs370821294
- ClinGen CA6536082
- ClinVar RCV001251954
- ClinVar RCV001309564
- Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.12
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Likely benign (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)