T53I (p.Thr53Ile) variant of TPM1 (Tropomyosin alpha-1 chain)
T53I (p.Thr53Ile) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- rs2140628162
- ClinGen CA392718571
- ClinVar RCV002008477
- ClinVar RCV006458849
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.47
- MetaLR 0.89
- MetaSVM 0.86
- PolyPhen-2 0.01
- SIFT 0.04
- MutPred 0.58
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available