A127V (p.Ala127Val) variant of FOXP3 (Forkhead box protein P3)
A127V (p.Ala127Val) 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 0.61 / 1. The record also includes population frequency data.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- NCI-TCGA Cosmic COSV6605
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.58
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)