F53S (p.Phe53Ser) variant of HMGCR (P04035)
F53S (p.Phe53Ser) in HMGCR (P04035) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F53S (p.Phe53Ser) variant details
- p.Phe53Ser
- ExAC rs764673047
- TOPMed rs764673047
- gnomAD rs764673047
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available