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 0.86 / 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 0.856
- REVEL 0.92
- CADD 26.00
- PolyPhen-2 0.50
- SIFT 0.02
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available