Q67R (p.Gln67Arg) variant of CYP27B1 (O15528)
Q67R (p.Gln67Arg) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Vitamin D-dependent rickets, type 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q67R (p.Gln67Arg) variant details
- p.Gln67Arg
- rs548176807
- ClinGen CA6658507
- ClinVar RCV002873881
- ClinVar RCV005011144
- Uncertain significance
- Inborn genetic diseases; Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.85
- PolyPhen-2 0.02
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases; Vitamin D-dependent rickets, type 1A; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)