E88G (p.Glu88Gly) variant of NLRP1 (Q9C000)
E88G (p.Glu88Gly) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar 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 0.06 / 1. The record also includes population frequency data.
E88G (p.Glu88Gly) variant details
- p.Glu88Gly
- gnomAD rs1905966149
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0617
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)