R553C (p.Arg553Cys) variant of FOXP2 (Forkhead box protein P2)
R553C (p.Arg553Cys) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Childhood apraxia of speech; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and published literature.
R553C (p.Arg553Cys) variant details
- p.Arg553Cys
- rs566961630
- ClinGen CA4446176
- ClinVar RCV003143391
- ClinVar RCV004786880
- Conflicting interpretations
- Childhood apraxia of speech; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Childhood apraxia of speech; not provided)
- EBI: Likely pathogenic (in SPCH1)
- UniProt: Likely pathogenic (in SPCH1)
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Cited in: FOXP2-Related Speech and Language Disorder. (PMID 27336128)