G53D (p.Gly53Asp) variant of IL1R1 (Interleukin-1 receptor type 1)
G53D (p.Gly53Asp) in IL1R1 (Interleukin-1 receptor type 1) 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 0.20 / 1. The record also includes population frequency data and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- rs774553627
- ClinGen CA1808124
- ClinVar RCV004122871
- ExAC rs774553627
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.24
- CADD 5.14
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available