N36S (p.Asn36Ser) variant of NOD1 (Q9Y239)
N36S (p.Asn36Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
N36S (p.Asn36Ser) variant details
- p.Asn36Ser
- ExAC rs752766475
- TOPMed rs752766475
- gnomAD rs752766475
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.13
- CADD 17.70
- PolyPhen-2 0.05
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available