K181N (p.Lys181Asn) variant of FOXG1 (Forkhead box protein G1)
K181N (p.Lys181Asn) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
K181N (p.Lys181Asn) variant details
- p.Lys181Asn
- rs767961672
- ClinGen CA10654766
- ClinVar RCV000408627
- ClinVar RCV001577698
- Pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.92
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)