R39T (p.Arg39Thr) variant of HSD3B2 (P26439)
R39T (p.Arg39Thr) 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 0.19 / 1. The record also includes population frequency data and structural context.
R39T (p.Arg39Thr) variant details
- p.Arg39Thr
- rs761068679
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10102
- ExAC rs761068679
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.16
- MetaLR 0.18
- MetaSVM -0.96
- CADD 7.28
- PolyPhen-2 0.08
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available