S120C (p.Ser120Cys) variant of IRAK1 (P51617)
S120C (p.Ser120Cys) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar 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 0.20 / 1. The record also includes population frequency data and structural context.
S120C (p.Ser120Cys) variant details
- p.Ser120Cys
- ExAC rs782002126
- TOPMed rs782002126
- gnomAD rs782002126
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 8.87
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available