G4R (p.Gly4Arg) variant of NLRP1 (Q9C000)
G4R (p.Gly4Arg) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and published literature.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs201312429
- ClinGen CA8327663
- NCI-TCGA Cosmic COSV5255
- cosmic curated COSV52559
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0742
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- 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)