A15V (p.Ala15Val) variant of FOXP1 (Forkhead box protein P1)
A15V (p.Ala15Val) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs532329866
- ClinGen CA208669
- cosmic curated COSV10056
- ClinVar RCV000194481
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 25.00
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- 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)