D74N (p.Asp74Asn) variant of HSD3B2 (P26439)
D74N (p.Asp74Asn) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D74N (p.Asp74Asn) variant details
- p.Asp74Asn
- rs4986954
- ClinGen CA1035919
- ClinVar RCV000894295
- ClinVar RCV001100605
- Benign/Likely benign
- not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.38
- MetaLR 0.49
- MetaSVM -0.26
- CADD 23.60
- PolyPhen-2 0.50
- SIFT 0.01
- ClinVar: Benign/Likely benign (not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Benign (in dbSNP:rs4986954)
- UniProt: Benign (in dbSNP:rs4986954)
- Most common in the 1KG:GWD population (allele frequency 0.026)
- Structural context available