A125S (p.Ala125Ser) variant of IRAK1 (P51617)
A125S (p.Ala125Ser) in IRAK1 (P51617) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A125S (p.Ala125Ser) variant details
- p.Ala125Ser
- ExAC rs781919207
- TOPMed rs781919207
- gnomAD rs781919207
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.087
- REVEL 0.09
- CADD 0.26
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5e-05)
- Structural context available