L88S (p.Leu88Ser) variant of HMGCS2 (P54868)
L88S (p.Leu88Ser) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L88S (p.Leu88Ser) variant details
- p.Leu88Ser
- gnomAD rs1270679177
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.94
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available