H116D (p.His116Asp) variant of CYP27B1 (O15528)
H116D (p.His116Asp) 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 0.48 / 1. The record also includes population frequency data and structural context.
H116D (p.His116Asp) variant details
- p.His116Asp
- rs758218175
- ClinGen CA6658492
- ClinVar RCV002616690
- ClinVar RCV005011056
- Uncertain significance
- Vitamin D-dependent rickets, type 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -0.96
- PolyPhen-2 0.07
- SIFT 0.39
- 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