E37Q (p.Glu37Gln) variant of FGFR2 (P21802)
E37Q (p.Glu37Gln) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- rs2135481826
- ClinGen CA378327721
- ClinVar RCV003129116
- Ensembl rs2135481826
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.47
- MetaLR 0.47
- MetaSVM -0.27
- PolyPhen-2 0.51
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available