E20K (p.Glu20Lys) variant of CYP27B1 (O15528)
E20K (p.Glu20Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs775461299
- NCI-TCGA Cosmic COSV5734
- ExAC rs775461299
- TOPMed rs775461299
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -1.00
- PolyPhen-2 0.02
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available