R16K (p.Arg16Lys) variant of HMGCS2 (P54868)
R16K (p.Arg16Lys) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R16K (p.Arg16Lys) variant details
- p.Arg16Lys
- ExAC rs773898985
- TOPMed rs773898985
- gnomAD rs773898985
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.07
- CADD 4.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available