N18D (p.Asn18Asp) variant of FOXP2 (Forkhead box protein P2)
N18D (p.Asn18Asp) 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 not provided; Inborn genetic diseases; Childhood apraxia of speech. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N18D (p.Asn18Asp) variant details
- p.Asn18Asp
- rs763263115
- ClinGen CA4445644
- ClinVar RCV000319526
- ClinVar RCV004022038
- Conflicting interpretations
- not provided; Inborn genetic diseases; Childhood apraxia of speech
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.24
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Childhood apraxia of spee)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)