I8L (p.Ile8Leu) variant of FGFR2 (P21802)
I8L (p.Ile8Leu) in FGFR2 (P21802) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I8L (p.Ile8Leu) variant details
- p.Ile8Leu
- TOPMed rs1287624070
- gnomAD rs1287624070
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.23
- CADD 3.92
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available