Q22Q (p.Gln22Gln) variant of ACTN2 (Alpha-actinin-2)
Q22Q (p.Gln22Gln) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q22Q (p.Gln22Gln) variant details
- p.Gln22Gln
- rs761544833
- gnomAD 1-236686739-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 13.60
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Literature evidence available