S69T (p.Ser69Thr) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
S69T (p.Ser69Thr) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S69T (p.Ser69Thr) variant details
- p.Ser69Thr
- gnomAD X-105195598-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.18
- CADD 23.80
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available