D35N (p.Asp35Asn) variant of HSD3B2 (P26439)
D35N (p.Asp35Asn) 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 0.77 / 1. The record also includes population frequency data and structural context.
D35N (p.Asp35Asn) variant details
- p.Asp35Asn
- NCI-TCGA Cosmic COSV6559
- cosmic curated COSV65592
- gnomAD rs1651679611
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.73
- MetaLR 0.84
- MetaSVM 0.85
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available