V61F (p.Val61Phe) variant of HMGCS2 (P54868)
V61F (p.Val61Phe) in HMGCS2 (P54868) 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 0.60 / 1. The record also includes population frequency data and structural context.
V61F (p.Val61Phe) variant details
- p.Val61Phe
- ExAC rs746685363
- gnomAD rs746685363
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.67
- CADD 24.30
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available