R27K (p.Arg27Lys) variant of FOXP3 (Forkhead box protein P3)
R27K (p.Arg27Lys) 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 Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- rs2147949688
- ClinGen CA412954240
- ClinVar RCV001369407
- Ensembl rs2147949688
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 0.07
- MetaLR 0.70
- MetaSVM -0.06
- PolyPhen-2 0.00
- SIFT 0.26
- MutPred 0.16
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: IPEX Syndrome. (PMID 20301297)