E100K (p.Glu100Lys) variant of HMGCS2 (P54868)
E100K (p.Glu100Lys) 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 0.86 / 1. The record also includes population frequency data and structural context.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- rs1332784240
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65567
- Ensembl rs1332784240
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.95
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available