I21I (p.Ile21Ile) variant of ACTN2 (Alpha-actinin-2)
I21I (p.Ile21Ile) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I21I (p.Ile21Ile) variant details
- p.Ile21Ile
- gnomAD 1-236686736-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available