I114T (p.Ile114Thr) variant of MYH6 (Myosin-6)
I114T (p.Ile114Thr) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
I114T (p.Ile114Thr) variant details
- p.Ile114Thr
- rs899143706
- ClinGen CA257799121
- ClinVar RCV003165123
- ClinVar RCV004540628
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.83
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available