R33P (p.Arg33Pro) variant of FOXP1 (Forkhead box protein P1)
R33P (p.Arg33Pro) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. 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.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- rs587780339
- ClinGen CA152900
- ClinVar RCV000117092
- ExAC rs587780339
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 27.60
- PolyPhen-2 0.10
- SIFT 0.05
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available