V13V (p.Val13Val) variant of ACTN2 (Alpha-actinin-2)
V13V (p.Val13Val) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V13V (p.Val13Val) variant details
- p.Val13Val
- gnomAD 1-236686712-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 12.40
- Population evidence available
- Structural context available
- Literature evidence available