E6K (p.Glu6Lys) variant of HSD17B3 (P37058)
E6K (p.Glu6Lys) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- gnomAD rs1468885206
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.29
- MetaLR 0.45
- MetaSVM -0.50
- CADD 20.30
- PolyPhen-2 0.14
- SIFT 0.08
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available