M10I (p.Met10Ile) variant of TPM1 (Tropomyosin alpha-1 chain)
M10I (p.Met10Ile) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
M10I (p.Met10Ile) variant details
- p.Met10Ile
- rs868300913
- ClinGen CA272020126
- ClinVar RCV002913510
- Ensembl rs868300913
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.21
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available