C72F (p.Cys72Phe) variant of HSD3B2 (P26439)
C72F (p.Cys72Phe) in HSD3B2 (P26439) 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 0.84 / 1. The record also includes population frequency data and structural context.
C72F (p.Cys72Phe) variant details
- p.Cys72Phe
- rs747237944
- NCI-TCGA Cosmic COSV6559
- cosmic curated COSV65593
- ExAC rs747237944
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.80
- MetaLR 0.82
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available