G67R (p.Gly67Arg) variant of NFKB1 (P19838)
G67R (p.Gly67Arg) in NFKB1 (P19838) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
G67R (p.Gly67Arg) variant details
- p.Gly67Arg
- rs2149127915
- ClinGen CA357957695
- ClinVar RCV002747233
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 1.00
- MetaLR 0.58
- MetaSVM 0.35
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)