S62G (p.Ser62Gly) variant of IL1R1 (Interleukin-1 receptor type 1)
S62G (p.Ser62Gly) 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 0.09 / 1. The record also includes population frequency data and structural context.
S62G (p.Ser62Gly) variant details
- p.Ser62Gly
- rs202061965
- ClinGen CA1808126
- ClinVar RCV004078391
- ExAC rs202061965
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0939
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available