P21T (p.Pro21Thr) variant of PLN (Phospholamban)
P21T (p.Pro21Thr) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- rs397516786
- ClinGen CA134584
- ClinVar RCV000037584
- ClinVar RCV001237789
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.45
- MetaLR 0.45
- MetaSVM -0.17
- CADD 21.20
- PolyPhen-2 0.23
- SIFT 0.72
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1P; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)