Y12Y (p.Tyr12Tyr) variant of ACTN2 (Alpha-actinin-2)
Y12Y (p.Tyr12Tyr) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Y12Y (p.Tyr12Tyr) variant details
- p.Tyr12Tyr
- rs1302783639
- gnomAD 1-236686709-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available