V25M (p.Val25Met) variant of HSD17B3 (P37058)
V25M (p.Val25Met) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- 1000Genomes rs114520006
- ExAC rs114520006
- TOPMed rs114520006
- gnomAD rs114520006
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.18
- MetaLR 0.30
- MetaSVM -0.82
- CADD 0.00
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available