T227A (p.Thr227Ala) variant of HSD17B3 (P37058)
T227A (p.Thr227Ala) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Disorder of sexual differentiation. 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.
T227A (p.Thr227Ala) variant details
- p.Thr227Ala
- rs1318050831
- ClinGen CA374123379
- ClinVar RCV001568325
- gnomAD rs1318050831
- Pathogenic
- Disorder of sexual differentiation
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.57
- CADD 17.10
- SIFT 1.00
- ClinVar: Pathogenic (Disorder of sexual differentiation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available