L32I (p.Leu32Ile) variant of FOXP1 (Forkhead box protein P1)
L32I (p.Leu32Ile) 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 published literature and structural context.
L32I (p.Leu32Ile) variant details
- p.Leu32Ile
- rs2063426502
- ClinGen CA353565138
- ClinVar RCV003148111
- Uncertain significance
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.06
- MetaLR 0.71
- MetaSVM 0.43
- PolyPhen-2 0.06
- SIFT 0.19
- MutPred 0.19
- 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)