A28T (p.Ala28Thr) variant of CYP11B1 (P15538)
A28T (p.Ala28Thr) in CYP11B1 (P15538) 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 0.31 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs1413243201
- NCI-TCGA Cosmic COSV5282
- cosmic curated COSV52825
- TOPMed rs1413243201
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.27
- CADD 20.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available