Q46E (p.Gln46Glu) variant of FGFR2 (P21802)
Q46E (p.Gln46Glu) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q46E (p.Gln46Glu) variant details
- p.Gln46Glu
- cosmic curated COSV10033
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.08
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available