R35G (p.Arg35Gly) variant of NLRP1 (Q9C000)
R35G (p.Arg35Gly) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; NLRP1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- rs201788309
- ClinGen CA8327653
- ClinVar RCV002121453
- ClinVar RCV003395411
- Conflicting interpretations
- Inborn genetic diseases; not provided; NLRP1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0966
- CADD 3.94
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; NLRP1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.01)
- 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)