R14del (p.Arg14del) variant of PLN (Phospholamban)
R14del (p.Arg14del) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R14del (p.Arg14del) variant details
- rs397516784
- gnomAD 6-118558956-TAAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 20.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)
- Cited in: Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes… (PMID 23785128)