A100T (p.Ala100Thr) variant of MYH7 (Myosin-7)
A100T (p.Ala100Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A100T (p.Ala100Thr) variant details
- p.Ala100Thr
- rs730880154
- ClinGen CA013285
- NCI-TCGA Cosmic COSV6252
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.65
- MetaSVM 0.44
- CADD 26.50
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)