S138P (p.Ser138Pro) variant of HMGCS2 (P54868)
S138P (p.Ser138Pro) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S138P (p.Ser138Pro) variant details
- p.Ser138Pro
- rs764209022
- ClinGen CA1037893
- ClinVar RCV001221290
- ExAC rs764209022
- Uncertain significance
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.93
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (3-hydroxy-3-methylglutaryl-CoA synthase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available