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 0.46 / 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 0.463
- AlphaMissense 0.10
- MetaLR 0.60
- MetaSVM 0.05
- PolyPhen-2 0.01
- SIFT 0.16
- EVE 0.27
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available