P42Q (p.Pro42Gln) variant of FOXP1 (Forkhead box protein P1)
P42Q (p.Pro42Gln) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P42Q (p.Pro42Gln) variant details
- p.Pro42Gln
- ExAC rs766294895
- TOPMed rs766294895
- gnomAD rs766294895
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available