A38S (p.Ala38Ser) variant of FOXP3 (Forkhead box protein P3)
A38S (p.Ala38Ser) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs782239006
- ClinGen CA10411860
- ClinVar RCV001517345
- ExAC rs782239006
- Benign
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.20
- CADD 0.00
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Benign (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: IPEX Syndrome. (PMID 20301297)