R17H (p.Arg17His) variant of FERMT1 (Fermitin family homolog 1)
R17H (p.Arg17His) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; FERMT1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs369858160
- ClinGen CA9758561
- ClinVar RCV002035932
- ClinVar RCV003418326
- Uncertain significance
- Inborn genetic diseases; FERMT1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0596
- REVEL 0.04
- CADD 2.92
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases; FERMT1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)