S82C (p.Ser82Cys) variant of FOXP3 (Forkhead box protein P3)
S82C (p.Ser82Cys) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
S82C (p.Ser82Cys) variant details
- p.Ser82Cys
- gnomAD rs1557116620
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.33
- CADD 24.60
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.9e-05)