G13V (p.Gly13Val) variant of FOXP1 (Forkhead box protein P1)
G13V (p.Gly13Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- rs2108382290
- ClinGen CA353565254
- ClinVar RCV002266746
- Ensembl rs2108382290
- Uncertain significance
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)