D139N (p.Asp139Asn) variant of IL1RAPL1 (Q9NZN1)
D139N (p.Asp139Asn) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D139N (p.Asp139Asn) variant details
- p.Asp139Asn
- rs1238348693
- ClinGen CA412632120
- ClinVar RCV001550348
- ClinVar RCV004988679
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.24
- CADD 24.10
- PolyPhen-2 0.29
- 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)