F5C (p.Phe5Cys) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
F5C (p.Phe5Cys) in IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
F5C (p.Phe5Cys) variant details
- p.Phe5Cys
- gnomAD X-104658927-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -0.75
- CADD 20.70
- PolyPhen-2 0.11
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available