Q17L (p.Gln17Leu) variant of FOXP2 (Forkhead box protein P2)
Q17L (p.Gln17Leu) 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 Inborn genetic diseases; not provided; Childhood apraxia of speech. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q17L (p.Gln17Leu) variant details
- p.Gln17Leu
- rs201649896
- ClinGen CA241662
- cosmic curated COSV10441
- ClinVar RCV000175859
- Conflicting interpretations
- Inborn genetic diseases; not provided; Childhood apraxia of speech
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.40
- CADD 26.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Childhood apraxia of spee)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: FOXP2-Related Speech and Language Disorder. (PMID 27336128)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)