F31L (p.Phe31Leu) variant of MYH7 (Myosin-7)
F31L (p.Phe31Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- rs757655773
- ClinGen CA049702
- ClinVar RCV002020759
- ClinVar RCV006434502
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.30
- CADD 29.60
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available