K180Q (p.Lys180Gln) variant of IRAK1 (P51617)
K180Q (p.Lys180Gln) 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 0.13 / 1. The record also includes population frequency data and structural context.
K180Q (p.Lys180Gln) variant details
- p.Lys180Gln
- rs782216618
- ClinGen CA10558324
- cosmic curated COSV57655
- ClinVar RCV004403184
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.04
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available