E132K (p.Glu132Lys) variant of CYP27B1 (O15528)
E132K (p.Glu132Lys) in CYP27B1 (O15528) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E132K (p.Glu132Lys) variant details
- p.Glu132Lys
- rs1471238106
- NCI-TCGA Cosmic COSV9914
- TOPMed rs1471238106
- gnomAD rs1471238106
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- ESM-1b 0.44
- AlphaMissense 0.10
- MetaLR 0.26
- MetaSVM -0.71
- PolyPhen-2 0.77
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available