E114K (p.Glu114Lys) variant of HSD17B3 (P37058)
E114K (p.Glu114Lys) in HSD17B3 (P37058) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
E114K (p.Glu114Lys) variant details
- p.Glu114Lys
- rs568096279
- NCI-TCGA Cosmic COSV6455
- cosmic curated COSV64556
- 1000Genomes rs568096279
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- MetaLR 0.37
- MetaSVM -0.60
- CADD 17.50
- PolyPhen-2 0.34
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available