E29Q (p.Glu29Gln) variant of CYP27B1 (O15528)
E29Q (p.Glu29Gln) 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 0.13 / 1. The record also includes population frequency data and structural context.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- NCI-TCGA Cosmic COSV9914
- Ensembl rs2140398293
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available