T64I (p.Thr64Ile) variant of MYL3 (Myosin light chain 3)
T64I (p.Thr64Ile) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
T64I (p.Thr64Ile) variant details
- p.Thr64Ile
- rs1575498249
- ClinGen CA352498526
- ClinVar RCV000788333
- ClinVar RCV001208425
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.88
- MetaLR 0.46
- MetaSVM -0.04
- PolyPhen-2 0.32
- SIFT 0.03
- EVE 0.32
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available