T130A (p.Thr130Ala) variant of NOD1 (Q9Y239)
T130A (p.Thr130Ala) in NOD1 (Q9Y239) is a missense change. 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.
T130A (p.Thr130Ala) variant details
- p.Thr130Ala
- TOPMed rs1583775107
- gnomAD rs1583775107
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.03
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available