S4T (p.Ser4Thr) variant of MYH7 (Myosin-7)
S4T (p.Ser4Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S4T (p.Ser4Thr) variant details
- p.Ser4Thr
- rs1416852795
- ClinGen CA389054235
- ClinVar RCV004010049
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.22
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)