K55E (p.Lys55Glu) variant of CYP27B1 (O15528)
K55E (p.Lys55Glu) 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 0.27 / 1. The record also includes structural context.
K55E (p.Lys55Glu) variant details
- p.Lys55Glu
- rs1955366694
- ClinGen CA385509797
- ClinVar RCV002301257
- TOPMed rs1955366694
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.15
- MetaSVM -0.95
- PolyPhen-2 0.57
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available