K78R (p.Lys78Arg) variant of IL1RAPL1 (Q9NZN1)
K78R (p.Lys78Arg) in IL1RAPL1 (Q9NZN1) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K78R (p.Lys78Arg) variant details
- p.Lys78Arg
- rs138853476
- ClinGen CA10375386
- ClinVar RCV002628184
- ClinVar RCV004070554
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.22
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)