R14R (p.Arg14Arg) variant of PLN (Phospholamban)
R14R (p.Arg14Arg) in PLN (Phospholamban) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- gnomAD 6-118558961-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 13.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available