I87F (p.Ile87Phe) variant of MYH6 (Myosin-6)
I87F (p.Ile87Phe) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I87F (p.Ile87Phe) variant details
- p.Ile87Phe
- rs1021271475
- ClinGen CA257799212
- ClinVar RCV001205374
- ClinVar RCV001796385
- Uncertain significance
- Hypertrophic cardiomyopathy 14; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.69
- CADD 27.70
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14; not provided; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)