G159D (p.Gly159Asp) variant of IRAK1 (P51617)
G159D (p.Gly159Asp) 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 0.17 / 1. The record also includes population frequency data and structural context.
G159D (p.Gly159Asp) variant details
- p.Gly159Asp
- rs782338967
- ClinGen CA10558331
- ClinVar RCV004256847
- ExAC rs782338967
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.21
- CADD 6.67
- PolyPhen-2 0.19
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available