T152S (p.Thr152Ser) variant of IRAK1 (P51617)
T152S (p.Thr152Ser) 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 0.10 / 1. The record also includes population frequency data and structural context.
T152S (p.Thr152Ser) variant details
- p.Thr152Ser
- rs782422452
- ClinGen CA10558334
- ClinVar RCV004244419
- ExAC rs782422452
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.05
- CADD 6.56
- PolyPhen-2 0.02
- SIFT 0.63
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available