N187K (p.Asn187Lys) variant of FOXG1 (Forkhead box protein G1)
N187K (p.Asn187Lys) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
N187K (p.Asn187Lys) variant details
- p.Asn187Lys
- rs796052462
- ClinGen CA10588574
- ClinVar RCV000255136
- ClinVar RCV000624779
- Pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.51
- ClinVar: Pathogenic (Inborn genetic diseases; FOXG1 disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)