E115K (p.Glu115Lys) variant of HMGCS2 (P54868)
E115K (p.Glu115Lys) in HMGCS2 (P54868) 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 0.74 / 1. The record also includes population frequency data and structural context.
E115K (p.Glu115Lys) variant details
- p.Glu115Lys
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65568
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.75
- CADD 23.80
- PolyPhen-2 0.63
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available