P23L (p.Pro23Leu) variant of FGFR2 (P21802)
P23L (p.Pro23Leu) in FGFR2 (P21802) 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 0.68 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- ExAC rs774554190
- gnomAD rs774554190
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.61
- CADD 24.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available