L32M (p.Leu32Met) variant of ACTN2 (Alpha-actinin-2)
L32M (p.Leu32Met) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L32M (p.Leu32Met) variant details
- p.Leu32Met
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.23
- CADD 25.10
- PolyPhen-2 0.23
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available