Q17H (p.Gln17His) variant of FOXP1 (Forkhead box protein P1)
Q17H (p.Gln17His) 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 0.71 / 1. The record also includes population frequency data and structural context.
Q17H (p.Gln17His) variant details
- p.Gln17His
- ESP rs368833720
- TOPMed rs368833720
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 33.00
- PolyPhen-2 0.12
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available