S20L (p.Ser20Leu) variant of FOXP1 (Forkhead box protein P1)
S20L (p.Ser20Leu) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S20L (p.Ser20Leu) variant details
- p.Ser20Leu
- rs1348187295
- ClinGen CA353565211
- NCI-TCGA Cosmic COSV5951
- cosmic curated COSV59519
- Uncertain significance
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)