E40Q (p.Glu40Gln) variant of FOXP1 (Forkhead box protein P1)
E40Q (p.Glu40Gln) in FOXP1 (Forkhead box protein P1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- gnomAD rs1398482259
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 26.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available