E53K (p.Glu53Lys) variant of NOD1 (Q9Y239)
E53K (p.Glu53Lys) 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.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- 1000Genomes rs150782149
- ESP rs150782149
- ExAC rs150782149
- TOPMed rs150782149
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.36
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available