D54N (p.Asp54Asn) variant of NOD1 (Q9Y239)
D54N (p.Asp54Asn) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- TOPMed rs1786420487
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.21
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available