H101R (p.His101Arg) variant of FOXP3 (Forkhead box protein P3)
H101R (p.His101Arg) 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 Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H101R (p.His101Arg) variant details
- p.His101Arg
- rs1557116600
- ClinGen CA412953334
- ClinVar RCV003268022
- ClinVar RCV006561319
- Uncertain significance
- Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Insulin-dependent diabetes mellitus sec)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)