G13R (p.Gly13Arg) variant of FOXP1 (Forkhead box protein P1)
G13R (p.Gly13Arg) 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 0.58 / 1. The record also includes population frequency data and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- TOPMed rs1202112901
- gnomAD rs1202112901
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 24.80
- PolyPhen-2 0.20
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available