G89E (p.Gly89Glu) variant of NLRP1 (Q9C000)
G89E (p.Gly89Glu) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
G89E (p.Gly89Glu) variant details
- p.Gly89Glu
- rs766597944
- ClinGen CA397390620
- ClinVar RCV003734473
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available