G19A (p.Gly19Ala) variant of FOXP1 (Forkhead box protein P1)
G19A (p.Gly19Ala) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- TOPMed rs913995844
- gnomAD rs913995844
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 24.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available