N227K (p.Asn227Lys) variant of FOXG1 (Forkhead box protein G1)
N227K (p.Asn227Lys) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
N227K (p.Asn227Lys) variant details
- p.Asn227Lys
- rs786205012
- ClinGen CA199447
- ClinVar RCV000170086
- Ensembl rs786205012
- Likely pathogenic
- Microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)