M114K (p.Met114Lys) variant of HMGCS2 (P54868)
M114K (p.Met114Lys) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
M114K (p.Met114Lys) variant details
- p.Met114Lys
- TOPMed rs1653142058
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.95
- CADD 24.50
- PolyPhen-2 0.86
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available