T60I (p.Thr60Ile) variant of MYH7 (Myosin-7)
T60I (p.Thr60Ile) 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 0.53 / 1. The record also includes structural context.
T60I (p.Thr60Ile) variant details
- p.Thr60Ile
- rs2138686529
- ClinGen CA389053655
- ClinVar RCV001956859
- Ensembl rs2138686529
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.64
- ESM-1b 0.01
- AlphaMissense 0.10
- MetaLR 0.60
- MetaSVM 0.05
- CADD 24.10
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available