I9V (p.Ile9Val) variant of IL1RAPL1 (Q9NZN1)
I9V (p.Ile9Val) 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 0.20 / 1. The record also includes population frequency data and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- rs2518875104
- ClinGen CA412631843
- ClinVar RCV003695449
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.06
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available