T34I (p.Thr34Ile) variant of MYL2 (P10916)
T34I (p.Thr34Ile) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T34I (p.Thr34Ile) variant details
- p.Thr34Ile
- rs876657894
- ClinGen CA10576906
- ClinVar RCV000220734
- ClinVar RCV001187404
- Uncertain significance
- not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.47
- AlphaMissense 0.96
- MetaLR 0.38
- MetaSVM -0.23
- CADD 26.20
- PolyPhen-2 0.71
- ClinVar: Uncertain significance (not specified; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)