R54Q (p.Arg54Gln) variant of VDR (Vitamin D3 receptor)
R54Q (p.Arg54Gln) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Vitamin D-dependent rickets type II with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs148368146
- ClinGen CA6534013
- ClinVar RCV001878754
- ClinVar RCV002551108
- Uncertain significance
- Inborn genetic diseases; not provided; Vitamin D-dependent rickets type II with
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.79
- MetaLR 0.92
- MetaSVM 1.06
- CADD 29.10
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Vitamin D-dependent ricke)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00099)
- 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)