A106V (p.Ala106Val) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
A106V (p.Ala106Val) 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 likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A106V (p.Ala106Val) variant details
- p.Ala106Val
- rs144175494
- ClinGen CA10480272
- ClinVar RCV000900861
- 1000Genomes rs144175494
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.10
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available