E37K (p.Glu37Lys) variant of ACTN2 (Alpha-actinin-2)
E37K (p.Glu37Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- TOPMed rs1313122387
- gnomAD rs1313122387
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.31
- CADD 25.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available