G30R (p.Gly30Arg) variant of FOXP1 (Forkhead box protein P1)
G30R (p.Gly30Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- TOPMed rs913003790
- gnomAD rs913003790
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 13.20
- PolyPhen-2 0.06
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available