P30S (p.Pro30Ser) variant of MYH7 (Myosin-7)
P30S (p.Pro30Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs1016438334
- ClinGen CA389053962
- ClinVar RCV001177249
- ClinVar RCV001773420
- Uncertain significance
- not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.36
- ESM-1b 0.94
- AlphaMissense 0.13
- MetaLR 0.54
- MetaSVM 0.25
- CADD 23.90
- ClinVar: Uncertain significance (not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)