E20K (p.Glu20Lys) variant of HMGCS2 (P54868)
E20K (p.Glu20Lys) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- cosmic curated COSV65567
- gnomAD rs1332746126
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.11
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available