I21F (p.Ile21Phe) variant of ACTN2 (Alpha-actinin-2)
I21F (p.Ile21Phe) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I21F (p.Ile21Phe) variant details
- p.Ile21Phe
- gnomAD 1-236686734-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.10
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available