G52V (p.Gly52Val) variant of FOXP3 (Forkhead box protein P3)
G52V (p.Gly52Val) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- rs17847095
- ClinGen CA10411852
- cosmic curated COSV66050
- ClinVar RCV000885000
- Benign/Likely benign
- not specified; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.22
- CADD 14.00
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; Insulin-dependent diabetes mellitus secretory dia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:XIBO population (allele frequency 0.1)
- Cited in: IPEX Syndrome. (PMID 20301297)