R337Q (p.Arg337Gln) variant of FOXP3 (Forkhead box protein P3)
R337Q (p.Arg337Gln) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/likely risk allele in the context of not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome; N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R337Q (p.Arg337Gln) variant details
- p.Arg337Gln
- rs2066044949
- ClinGen CA412950214
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66052
- Pathogenic/Likely pathogenic/Likely risk allele
- not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome; N
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic/Likely risk allele (not provided; Insulin-dependent diabetes mellitus secretory diar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: IPEX Syndrome. (PMID 20301297)