L6F (p.Leu6Phe) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
L6F (p.Leu6Phe) in IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- rs148390300
- ClinGen CA10480233
- ClinVar RCV003434596
- ClinVar RCV004076727
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.08
- MetaLR 0.00
- MetaSVM -0.90
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available