P28A (p.Pro28Ala) variant of FGFR1 (P11362)
P28A (p.Pro28Ala) in FGFR1 (P11362) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- TOPMed rs1204612499
- gnomAD rs1204612499
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.29
- CADD 15.50
- PolyPhen-2 0.07
- SIFT 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available