E16Q (p.Glu16Gln) variant of ACTN2 (Alpha-actinin-2)
E16Q (p.Glu16Gln) in ACTN2 (Alpha-actinin-2) is a missense 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.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- gnomAD 1-236686719-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available