G122V (p.Gly122Val) variant of HSD17B3 (P37058)
G122V (p.Gly122Val) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G122V (p.Gly122Val) variant details
- p.Gly122Val
- TOPMed rs1825474448
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.64
- MetaLR 0.79
- MetaSVM 0.65
- CADD 22.80
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available