A14G (p.Ala14Gly) variant of HMGCR (P04035)
A14G (p.Ala14Gly) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- ExAC rs763611929
- TOPMed rs763611929
- gnomAD rs763611929
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.42
- CADD 27.30
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available