R9R (p.Arg9Arg) variant of PLN (Phospholamban)
R9R (p.Arg9Arg) in PLN (Phospholamban) is a synonymous 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.
R9R (p.Arg9Arg) variant details
- p.Arg9Arg
- rs145623013
- gnomAD 6-118558948-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 12.60
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)