S518N (p.Ser518Asn) variant of FOXP1 (Forkhead box protein P1)
S518N (p.Ser518Asn) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual disability-severe speech delay-mild dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
S518N (p.Ser518Asn) variant details
- p.Ser518Asn
- rs2107200789
- ClinGen CA353491805
- ClinVar RCV001788526
- Ensembl rs2107200789
- Pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)