N12Y (p.Asn12Tyr) variant of FOXP1 (Forkhead box protein P1)
N12Y (p.Asn12Tyr) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N12Y (p.Asn12Tyr) variant details
- p.Asn12Tyr
- rs2108382372
- ClinGen CA353565264
- ClinVar RCV001420541
- Ensembl rs2108382372
- Uncertain significance
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)