A55T (p.Ala55Thr) variant of NOD1 (Q9Y239)
A55T (p.Ala55Thr) in NOD1 (Q9Y239) 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 0.25 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs1243444671
- ClinGen CA367137152
- ClinVar RCV004311056
- TOPMed rs1243444671
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.17
- CADD 14.40
- PolyPhen-2 0.47
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available