I114M (p.Ile114Met) variant of MYH6 (Myosin-6)
I114M (p.Ile114Met) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I114M (p.Ile114Met) variant details
- p.Ile114Met
- rs2502208946
- ClinGen CA389031351
- ClinVar RCV002337445
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.63
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available