P193H (p.Pro193His) variant of HSD17B3 (P37058)
P193H (p.Pro193His) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudohermaphroditism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
P193H (p.Pro193His) variant details
- p.Pro193His
- rs773720185
- ClinGen CA374123956
- ClinVar RCV000583085
- ExAC rs773720185
- Likely pathogenic
- Pseudohermaphroditism
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.74
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Pseudohermaphroditism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available