R33L (p.Arg33Leu) variant of FOXP1 (Forkhead box protein P1)
R33L (p.Arg33Leu) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- ExAC rs587780339
- TOPMed rs587780339
- gnomAD rs587780339
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 27.10
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available