Y147D (p.Tyr147Asp) variant of NOD1 (Q9Y239)
Y147D (p.Tyr147Asp) 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 0.78 / 1. The record also includes population frequency data and structural context.
Y147D (p.Tyr147Asp) variant details
- p.Tyr147Asp
- ExAC rs759354279
- TOPMed rs759354279
- gnomAD rs759354279
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.87
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available