D27E (p.Asp27Glu) variant of ACTN2 (Alpha-actinin-2)
D27E (p.Asp27Glu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- gnomAD 1-236686754-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.28
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available