M90I (p.Met90Ile) variant of MYH7 (Myosin-7)
M90I (p.Met90Ile) 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 0.87 / 1. The record also includes population frequency data and structural context.
M90I (p.Met90Ile) variant details
- p.Met90Ile
- rs2138685634
- ClinGen CA389053283
- ClinVar RCV001879552
- Ensembl rs2138685634
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.14
- CADD 26.50
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available