T123I (p.Thr123Ile) variant of NOD1 (Q9Y239)
T123I (p.Thr123Ile) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T123I (p.Thr123Ile) variant details
- p.Thr123Ile
- TOPMed rs1184069820
- gnomAD rs1184069820
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.44
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available