N74T (p.Asn74Thr) variant of HSD17B3 (P37058)
N74T (p.Asn74Thr) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Testosterone 17-beta-dehydrogenase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
N74T (p.Asn74Thr) variant details
- p.Asn74Thr
- rs780178733
- ClinGen CA5140489
- ClinVar RCV001796081
- ClinVar RCV003558414
- Pathogenic/Likely pathogenic
- Testosterone 17-beta-dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.57
- MetaLR 0.73
- MetaSVM 0.69
- CADD 23.40
- PolyPhen-2 0.71
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Testosterone 17-beta-dehydrogenase deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available