E37R (p.Glu37Arg) variant of ACTN2 (Alpha-actinin-2)
E37R (p.Glu37Arg) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E37R (p.Glu37Arg) variant details
- p.Glu37Arg
- gnomAD 1-236686779-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available