P81S (p.Pro81Ser) variant of MYH7 (Myosin-7)
P81S (p.Pro81Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- rs1489940065
- ClinGen CA389053384
- ClinVar RCV001224750
- ClinVar RCV001813816
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.08
- CADD 32.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00072)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)