E16E (p.Glu16Glu) variant of ACTN2 (Alpha-actinin-2)
E16E (p.Glu16Glu) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E16E (p.Glu16Glu) variant details
- p.Glu16Glu
- rs397516580
- gnomAD 1-236686721-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.18
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available
- Literature evidence available