K656E (p.Lys656Glu) variant of FGFR1 (P11362)
K656E (p.Lys656Glu) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Encephalocraniocutaneous lipomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
K656E (p.Lys656Glu) variant details
- p.Lys656Glu
- rs869320694
- ClinGen CA358862
- NCI-TCGA Cosmic COSV5832
- cosmic curated COSV58327
- Pathogenic
- Encephalocraniocutaneous lipomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Encephalocraniocutaneous lipomatosis)
- EBI: Pathogenic (in ECCL)
- UniProt: Pathogenic (in ECCL)
- Structural context available
- Cited in: Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report… (PMID 25705862)
- Cited in: Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. (PMID 26942290)