V22A (p.Val22Ala) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
V22A (p.Val22Ala) 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 uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- rs139525400
- ClinGen CA10480239
- ClinVar RCV004235989
- 1000Genomes rs139525400
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.15
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.90
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available