A125T (p.Ala125Thr) variant of IRAK1 (P51617)
A125T (p.Ala125Thr) 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 0.08 / 1. The record also includes population frequency data and structural context.
A125T (p.Ala125Thr) variant details
- p.Ala125Thr
- ExAC rs781919207
- TOPMed rs781919207
- gnomAD rs781919207
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0816
- REVEL 0.08
- CADD 3.44
- PolyPhen-2 0.03
- SIFT 0.46
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available