P21S (p.Pro21Ser) variant of PLN (Phospholamban)
P21S (p.Pro21Ser) 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; Hypertrophic cardiomyopathy 18. 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.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs397516786
- ClinGen CA365546219
- ClinVar RCV001330958
- ClinVar RCV006557374
- Uncertain significance
- Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.42
- MetaLR 0.46
- MetaSVM -0.23
- CADD 20.90
- PolyPhen-2 0.23
- SIFT 0.58
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)