A55S (p.Ala55Ser) variant of NOD1 (Q9Y239)
A55S (p.Ala55Ser) in NOD1 (Q9Y239) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- TOPMed rs1243444671
- gnomAD rs1243444671
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.09
- CADD 8.27
- PolyPhen-2 0.08
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available