P306L (p.Pro306Leu) variant of FGFR1 (P11362)
P306L (p.Pro306Leu) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteoglophonic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
P306L (p.Pro306Leu) variant details
- p.Pro306Leu
- rs1586287963
- ClinGen CA370734804
- ClinVar RCV000787327
- Ensembl rs1586287963
- Likely pathogenic
- Osteoglophonic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.80
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.36
- ClinVar: Likely pathogenic (Osteoglophonic dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Osteoglophonic Dysplasia. (PMID 38648328)