R106Q (p.Arg106Gln) variant of IL1RAPL1 (Q9NZN1)
R106Q (p.Arg106Gln) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R106Q (p.Arg106Gln) variant details
- p.Arg106Gln
- rs751673587
- ClinGen CA10375392
- NCI-TCGA Cosmic COSV5624
- ClinVar RCV003342437
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.56
- CADD 27.50
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)