G39A (p.Gly39Ala) variant of FOXP1 (Forkhead box protein P1)
G39A (p.Gly39Ala) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability-severe speech delay-mild dysmorphism syndrome; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- rs2108381045
- ClinGen CA353565096
- ClinVar RCV002510725
- ClinVar RCV006559505
- Uncertain significance
- Intellectual disability-severe speech delay-mild dysmorphism syndrome; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.21
- MetaLR 0.82
- MetaSVM 0.74
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)