N330I (p.Asn330Ile) variant of FGFR1 (P11362)
N330I (p.Asn330Ile) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteoglophonic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
N330I (p.Asn330Ile) variant details
- p.Asn330Ile
- rs121909632
- ClinGen CA126353
- ClinVar RCV000017678
- UniProt VAR 030987
- Pathogenic
- Osteoglophonic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.34
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.06
- EVE 0.54
- ClinVar: Pathogenic (Osteoglophonic dysplasia)
- EBI: Pathogenic (in OGD)
- UniProt: Pathogenic (in OGD)
- Structural context available
- Cited in: FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. (PMID 12952917)
- Cited in: Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. (PMID 15625620)