R33W (p.Arg33Trp) variant of FOXP1 (Forkhead box protein P1)
R33W (p.Arg33Trp) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar 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.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- rs1358353721
- NCI-TCGA Cosmic COSV5952
- cosmic curated COSV59520
- TOPMed rs1358353721
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 32.00
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available