Y6H (p.Tyr6His) variant of PLN (Phospholamban)
Y6H (p.Tyr6His) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y6H (p.Tyr6His) variant details
- p.Tyr6His
- rs780082801
- ClinGen CA3977968
- ClinVar RCV002595829
- ExAC rs780082801
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.29
- MetaLR 0.20
- MetaSVM -0.72
- CADD 7.25
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)