S42P (p.Ser42Pro) variant of FOXP2 (Forkhead box protein P2)
S42P (p.Ser42Pro) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood apraxia of speech. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S42P (p.Ser42Pro) variant details
- p.Ser42Pro
- rs942638508
- ClinGen CA165206973
- ClinVar RCV001164489
- gnomAD rs942638508
- Uncertain significance
- Childhood apraxia of speech
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.04
- ClinVar: Uncertain significance (Childhood apraxia of speech)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available
- Cited in: FOXP2-Related Speech and Language Disorder. (PMID 27336128)