G46S (p.Gly46Ser) variant of CYP11B1 (P15538)
G46S (p.Gly46Ser) 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 0.12 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- NCI-TCGA Cosmic COSV5282
- cosmic curated COSV52824
- gnomAD rs1817085014
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.04
- CADD 6.41
- PolyPhen-2 0.39
- SIFT 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available