A146E (p.Ala146Glu) variant of HSD17B3 (P37058)
A146E (p.Ala146Glu) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A146E (p.Ala146Glu) variant details
- p.Ala146Glu
- gnomAD rs1227310598
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- MetaLR 0.62
- MetaSVM -0.30
- CADD 8.99
- PolyPhen-2 0.05
- SIFT 0.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available