R97P (p.Arg97Pro) variant of ACTC1 (Actin, alpha cardiac muscle 1)
R97P (p.Arg97Pro) in ACTC1 (Actin, alpha cardiac muscle 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R97P (p.Arg97Pro) variant details
- p.Arg97Pro
- gnomAD 15-34793399-GGGAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available