G39R (p.Gly39Arg) variant of FOXP1 (Forkhead box protein P1)
G39R (p.Gly39Arg) 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 0.79 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- rs752297898
- ExAC rs752297898
- gnomAD rs752297898
- ClinGen CA2491457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 28.30
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available