W26L (p.Trp26Leu) variant of ACTN2 (Alpha-actinin-2)
W26L (p.Trp26Leu) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
W26L (p.Trp26Leu) variant details
- p.Trp26Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.02
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available