V31E (p.Val31Glu) variant of HMGCS2 (P54868)
V31E (p.Val31Glu) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V31E (p.Val31Glu) variant details
- p.Val31Glu
- TOPMed rs1233603916
- gnomAD rs1233603916
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- CADD 10.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available