F90L (p.Phe90Leu) variant of FERMT1 (Fermitin family homolog 1)
F90L (p.Phe90Leu) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- ExAC rs568046323
- gnomAD rs568046323
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.34
- CADD 27.70
- PolyPhen-2 0.62
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available