F48L (p.Phe48Leu) variant of IL1RN (P18510)
F48L (p.Phe48Leu) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- gnomAD 2-113129603-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.18
- MetaLR 0.02
- MetaSVM -1.00
- CADD 19.50
- PolyPhen-2 0.36
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available