I51M (p.Ile51Met) variant of IL1RAPL1 (Q9NZN1)
I51M (p.Ile51Met) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I51M (p.Ile51Met) variant details
- p.Ile51Met
- Ensembl rs1932226932
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- CADD 23.30
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available