S72F (p.Ser72Phe) variant of IL1R1 (Interleukin-1 receptor type 1)
S72F (p.Ser72Phe) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S72F (p.Ser72Phe) variant details
- p.Ser72Phe
- gnomAD 2-102164927-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.18
- CADD 21.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available