R14H (p.Arg14His) variant of CYP27B1 (O15528)
R14H (p.Arg14His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- rs372223837
- ClinGen CA6658561
- ClinVar RCV001203041
- ClinVar RCV002484091
- Uncertain significance
- Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.17
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available