A55V (p.Ala55Val) variant of NOD1 (Q9Y239)
A55V (p.Ala55Val) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- 1000Genomes rs6947097
- ESP rs6947097
- ExAC rs6947097
- TOPMed rs6947097
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.11
- CADD 7.82
- PolyPhen-2 0.06
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available