F9S (p.Phe9Ser) variant of MYH6 (Myosin-6)
F9S (p.Phe9Ser) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data and structural context.
F9S (p.Phe9Ser) variant details
- p.Phe9Ser
- gnomAD rs1367579362
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.84
- CADD 25.30
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available