A117T (p.Ala117Thr) variant of IL1RAPL1 (Q9NZN1)
A117T (p.Ala117Thr) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A117T (p.Ala117Thr) variant details
- p.Ala117Thr
- rs778199033
- ClinGen CA10375397
- NCI-TCGA Cosmic COSV5626
- ClinVar RCV002214519
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.31
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available