V8V (p.Val8Val) variant of ACTN2 (Alpha-actinin-2)
V8V (p.Val8Val) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V8V (p.Val8Val) variant details
- p.Val8Val
- rs1665880874
- gnomAD 1-236686697-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available