L30L (p.Leu30Leu) variant of ACTN2 (Alpha-actinin-2)
L30L (p.Leu30Leu) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- gnomAD 1-236686761-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available