P109S (p.Pro109Ser) variant of IRAK1 (P51617)
P109S (p.Pro109Ser) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P109S (p.Pro109Ser) variant details
- p.Pro109Ser
- rs200423500
- ClinGen CA10558359
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57655
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.12
- CADD 8.59
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0068)
- Structural context available