I103V (p.Ile103Val) variant of IL1RAPL1 (Q9NZN1)
I103V (p.Ile103Val) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I103V (p.Ile103Val) variant details
- p.Ile103Val
- rs1355268343
- ClinGen CA412633335
- ClinVar RCV003554604
- TOPMed rs1355268343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.54
- CADD 21.20
- PolyPhen-2 0.34
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available