P65S (p.Pro65Ser) variant of NOD1 (Q9Y239)
P65S (p.Pro65Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- TOPMed rs1170560196
- gnomAD rs1170560196
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- CADD 14.40
- PolyPhen-2 0.06
- SIFT 0.84
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available