E40V (p.Glu40Val) variant of FOXP1 (Forkhead box protein P1)
E40V (p.Glu40Val) in FOXP1 (Forkhead box protein P1) 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; Intellectual disability-severe speech del. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E40V (p.Glu40Val) variant details
- p.Glu40Val
- rs765070623
- ClinGen CA2491456
- ClinVar RCV001196089
- ClinVar RCV001251757
- Conflicting interpretations
- Inborn genetic diseases; not provided; Intellectual disability-severe speech del
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 29.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Intellectual disability-s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)