S4W (p.Ser4Trp) variant of MYH7 (Myosin-7)
S4W (p.Ser4Trp) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S4W (p.Ser4Trp) variant details
- p.Ser4Trp
- rs758659692
- ClinGen CA389054232
- ClinVar RCV000628862
- ExAC rs758659692
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.37
- MetaSVM 0.06
- CADD 26.50
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available