W56S (p.Trp56Ser) variant of CYP11B1 (P15538)
W56S (p.Trp56Ser) 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 0.61 / 1. The record also includes population frequency data and structural context.
W56S (p.Trp56Ser) variant details
- p.Trp56Ser
- rs778994889
- ExAC rs778994889
- gnomAD rs778994889
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.38
- MetaLR 0.68
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available