P30T (p.Pro30Thr) variant of MYH7 (Myosin-7)
P30T (p.Pro30Thr) 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; not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- rs1016438334
- ClinGen CA257826921
- ClinVar RCV002756167
- ClinVar RCV004808369
- Uncertain significance
- Cardiomyopathy; not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.35
- ESM-1b 0.66
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM 0.25
- CADD 23.90
- ClinVar: Uncertain significance (Cardiomyopathy; not specified; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)