E18G (p.Glu18Gly) variant of ACTN2 (Alpha-actinin-2)
E18G (p.Glu18Gly) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- TOPMed rs1237522987
- gnomAD rs1237522987
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.10
- AlphaMissense 0.14
- MetaLR 0.18
- MetaSVM -0.72
- CADD 23.40
- PolyPhen-2 0.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available