L7F (p.Leu7Phe) variant of FGFR1 (P11362)
L7F (p.Leu7Phe) in FGFR1 (P11362) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- gnomAD rs1202687392
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available