S10L (p.Ser10Leu) variant of PLN (Phospholamban)
S10L (p.Ser10Leu) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- rs1554219846
- ClinGen CA365546051
- ClinVar RCV000539278
- Ensembl rs1554219846
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.68
- MetaLR 0.61
- MetaSVM 0.21
- CADD 23.80
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)