R104W (p.Arg104Trp) variant of CYP27B1 (O15528)
R104W (p.Arg104Trp) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets, type 1A; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R104W (p.Arg104Trp) variant details
- p.Arg104Trp
- rs771215877
- ClinGen CA6658501
- ClinVar RCV002602768
- ClinVar RCV003250786
- Uncertain significance
- Vitamin D-dependent rickets, type 1A; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A; Inborn genetic diseases; 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)