N546K (p.Asn546Lys) variant of FGFR1 (P11362)
N546K (p.Asn546Lys) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as tier i - strong in the context of Rosette-forming glioneuronal tumor; Encephalocraniocutaneous lipomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
N546K (p.Asn546Lys) variant details
- p.Asn546Lys
- rs779707422
- cosmic curated COSV58330
- ExAC rs779707422
- TOPMed rs779707422
- Tier I - Strong
- Rosette-forming glioneuronal tumor; Encephalocraniocutaneous lipomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Tier I - Strong (Dysembryoplastic neuroepithelial tumor; Pilocytic astrocytoma)
- EBI: Pathogenic (in ECCL)
- UniProt: Pathogenic (in ECCL)
- Structural context available
- Cited in: Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. (PMID 10766980)
- Cited in: The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations. (PMID 19224897)