L7H (p.Leu7His) variant of FGFR1 (P11362)
L7H (p.Leu7His) in FGFR1 (P11362) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L7H (p.Leu7His) variant details
- p.Leu7His
- 1000Genomes rs532741632
- ExAC rs532741632
- TOPMed rs532741632
- gnomAD rs532741632
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.67
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available