C72S (p.Cys72Ser) variant of HSD3B2 (P26439)
C72S (p.Cys72Ser) 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 0.73 / 1. The record also includes population frequency data and structural context.
C72S (p.Cys72Ser) variant details
- p.Cys72Ser
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10102
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.81
- MetaLR 0.76
- MetaSVM 0.67
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available