P147A (p.Pro147Ala) variant of FOXP3 (Forkhead box protein P3)
P147A (p.Pro147Ala) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
P147A (p.Pro147Ala) variant details
- p.Pro147Ala
- rs781856708
- ClinGen CA10411806
- ClinVar RCV000594280
- ClinVar RCV002491183
- Uncertain significance
- not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Insulin-dependent diabetes mellitus secretory diar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Cited in: IPEX Syndrome. (PMID 20301297)