A13T (p.Ala13Thr) variant of MYH7 (Myosin-7)
A13T (p.Ala13Thr) 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 provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs759231966
- ClinGen CA038963
- NCI-TCGA Cosmic COSV6251
- ClinVar RCV001062631
- Uncertain significance
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.60
- MetaSVM 0.11
- CADD 29.90
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)