K37E (p.Lys37Glu) variant of HSD17B3 (P37058)
K37E (p.Lys37Glu) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K37E (p.Lys37Glu) variant details
- p.Lys37Glu
- 1000Genomes rs781518300
- ExAC rs781518300
- gnomAD rs781518300
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.19
- MetaLR 0.39
- MetaSVM -0.80
- CADD 3.88
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available