F63L (p.Phe63Leu) variant of HMGCS2 (P54868)
F63L (p.Phe63Leu) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
F63L (p.Phe63Leu) variant details
- p.Phe63Leu
- ExAC rs758019802
- TOPMed rs758019802
- gnomAD rs758019802
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.64
- CADD 23.70
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available