S51L (p.Ser51Leu) variant of NOD1 (Q9Y239)
S51L (p.Ser51Leu) in NOD1 (Q9Y239) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S51L (p.Ser51Leu) variant details
- p.Ser51Leu
- ExAC rs751690035
- TOPMed rs751690035
- gnomAD rs751690035
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.24
- CADD 23.30
- PolyPhen-2 0.49
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available