R97R (p.Arg97Arg) variant of ACTC1 (Actin, alpha cardiac muscle 1)
R97R (p.Arg97Arg) in ACTC1 (Actin, alpha cardiac muscle 1) 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.
R97R (p.Arg97Arg) variant details
- p.Arg97Arg
- gnomAD 15-34793408-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.69
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available