R117H (p.Arg117His) variant of CYP27B1 (O15528)
R117H (p.Arg117His) 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; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R117H (p.Arg117His) variant details
- p.Arg117His
- rs765161769
- ClinGen CA6658490
- ClinVar RCV002991858
- ClinVar RCV005010867
- Uncertain significance
- Vitamin D-dependent rickets, type 1A; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.36
- MetaSVM -0.43
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A; not provided; Inborn genet)
- 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)