A22V (p.Ala22Val) variant of HSD17B3 (P37058)
A22V (p.Ala22Val) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- ExAC rs775234559
- TOPMed rs775234559
- gnomAD rs775234559
- Uncertain significance
- Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.14
- MetaLR 0.18
- MetaSVM -0.88
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Testosterone 17-beta-dehydrogenase deficiency)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available