S4L (p.Ser4Leu) variant of MYH7 (Myosin-7)
S4L (p.Ser4Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYH7-related disorder; Cardiovascular phenotype; not specified. 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.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- rs758659692
- ClinGen CA027806
- NCI-TCGA Cosmic COSV6252
- ClinVar RCV000435665
- Uncertain significance
- MYH7-related disorder; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.46
- CADD 24.40
- ClinVar: Uncertain significance (MYH7-related disorder; Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)