P43L (p.Pro43Leu) variant of IL1R1 (Interleukin-1 receptor type 1)
P43L (p.Pro43Leu) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs188550005
- NCI-TCGA Cosmic COSV5210
- cosmic curated COSV52108
- 1000Genomes rs188550005
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.17
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available