H112Q (p.His112Gln) variant of FOXP3 (Forkhead box protein P3)
H112Q (p.His112Gln) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
H112Q (p.His112Gln) variant details
- p.His112Gln
- ESP rs143632471
- ExAC rs143632471
- TOPMed rs143632471
- gnomAD rs143632471
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.41
- CADD 10.20
- PolyPhen-2 0.45
- SIFT 0.10
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 6.5e-05)