L30P (p.Leu30Pro) variant of NOD1 (Q9Y239)
L30P (p.Leu30Pro) 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 0.76 / 1. The record also includes population frequency data and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- TOPMed rs755169571
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.83
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available