I8V (p.Ile8Val) variant of FGFR2 (P21802)
I8V (p.Ile8Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- TOPMed rs1287624070
- gnomAD rs1287624070
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.22
- CADD 5.94
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available