G97A (p.Gly97Ala) variant of HSD17B3 (P37058)
G97A (p.Gly97Ala) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G97A (p.Gly97Ala) variant details
- p.Gly97Ala
- ExAC rs755385508
- TOPMed rs755385508
- gnomAD rs755385508
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.48
- MetaLR 0.83
- MetaSVM 0.41
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available