P40S (p.Pro40Ser) variant of MYH7 (Myosin-7)
P40S (p.Pro40Ser) 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; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- rs1893037347
- ClinGen CA389053848
- ClinVar RCV001979598
- ClinVar RCV003128837
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.08
- MetaLR 0.68
- MetaSVM 0.35
- PolyPhen-2 0.91
- SIFT 0.42
- EVE 0.30
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy; 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)