K180V (p.Lys180Val) variant of IRAK1 (P51617)
K180V (p.Lys180Val) in IRAK1 (P51617) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K180V (p.Lys180Val) variant details
- p.Lys180Val
- rs1557127286
- gnomAD X-154011063-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 0.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00032)
- Structural context available
- Literature evidence available