I51T (p.Ile51Thr) variant of MYH7 (Myosin-7)
I51T (p.Ile51Thr) 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 0.66 / 1. The record also includes population frequency data and structural context.
I51T (p.Ile51Thr) variant details
- p.Ile51Thr
- rs1893035421
- ClinGen CA389053728
- ClinVar RCV001342937
- Ensembl rs1893035421
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.88
- MetaSVM 0.58
- CADD 25.00
- 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