P30H (p.Pro30His) variant of FOXP3 (Forkhead box protein P3)
P30H (p.Pro30His) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
P30H (p.Pro30His) variant details
- p.Pro30His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.36
- CADD 19.70
- PolyPhen-2 0.59
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)