V12L (p.Val12Leu) variant of FGFR2 (P21802)
V12L (p.Val12Leu) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- 1000Genomes rs143978938
- ESP rs143978938
- ExAC rs143978938
- TOPMed rs143978938
- Uncertain significance
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.30
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available