P34Q (p.Pro34Gln) variant of ACTN2 (Alpha-actinin-2)
P34Q (p.Pro34Gln) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- gnomAD 1-236686771-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available