E34V (p.Glu34Val) variant of FGFR2 (P21802)
E34V (p.Glu34Val) 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 0.48 / 1. The record also includes population frequency data and structural context.
E34V (p.Glu34Val) variant details
- p.Glu34Val
- rs1863014865
- ClinGen CA378327772
- ClinVar RCV001529344
- TOPMed rs1863014865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.47
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available