D15del (p.Asp15del) variant of ACTN2 (Alpha-actinin-2)
D15del (p.Asp15del) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D15del (p.Asp15del) variant details
- rs771008376
- gnomAD 1-236686713-TACG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.20
- Most common in the East Asian population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available