P28R (p.Pro28Arg) variant of FGFR1 (P11362)
P28R (p.Pro28Arg) in FGFR1 (P11362) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- ESP rs145434725
- ExAC rs145434725
- TOPMed rs145434725
- gnomAD rs145434725
- Pathogenic
- Missense
- MetaLR 0.61
- MetaSVM 0.20
- SIFT 0.03
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available