H116R (p.His116Arg) variant of CYP27B1 (O15528)
H116R (p.His116Arg) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
H116R (p.His116Arg) variant details
- p.His116Arg
- rs2140397628
- ClinGen CA385507758
- ClinVar RCV003018818
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.42
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available