T77A (p.Thr77Ala) variant of IRAK4 (Q9NWZ3)
T77A (p.Thr77Ala) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T77A (p.Thr77Ala) variant details
- p.Thr77Ala
- rs1555167569
- ClinGen CA384466480
- ClinVar RCV000640678
- Ensembl rs1555167569
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available