A148G (p.Ala148Gly) variant of NOD1 (Q9Y239)
A148G (p.Ala148Gly) 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 0.21 / 1. The record also includes population frequency data and structural context.
A148G (p.Ala148Gly) variant details
- p.Ala148Gly
- ExAC rs766706770
- TOPMed rs766706770
- gnomAD rs766706770
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.12
- CADD 8.45
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available