L31I (p.Leu31Ile) variant of ACTN2 (Alpha-actinin-2)
L31I (p.Leu31Ile) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L31I (p.Leu31Ile) variant details
- p.Leu31Ile
- gnomAD 1-236686764-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available