L30M (p.Leu30Met) variant of ACTN2 (Alpha-actinin-2)
L30M (p.Leu30Met) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- gnomAD 1-236686761-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available