G127E (p.Gly127Glu) variant of NLRP1 (Q9C000)
G127E (p.Gly127Glu) 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 0.08 / 1. The record also includes population frequency data.
G127E (p.Gly127Glu) variant details
- p.Gly127Glu
- rs1905822749
- ClinGen CA397390102
- ClinVar RCV003428084
- TOPMed rs1905822749
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0781
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)