R33Q (p.Arg33Gln) variant of FOXP1 (Forkhead box protein P1)
R33Q (p.Arg33Gln) 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 0.76 / 1. The record also includes population frequency data and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs587780339
- ClinGen CA2491462
- ClinVar RCV001906888
- ExAC rs587780339
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 27.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available