L30P (p.Leu30Pro) variant of ACTN2 (Alpha-actinin-2)
L30P (p.Leu30Pro) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD 1-236686762-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.28
- CADD 25.80
- PolyPhen-2 0.23
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available