E88K (p.Glu88Lys) variant of NLRP1 (Q9C000)
E88K (p.Glu88Lys) 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 0.08 / 1. The record also includes population frequency data.
E88K (p.Glu88Lys) variant details
- p.Glu88Lys
- 1000Genomes rs562032379
- ExAC rs562032379
- TOPMed rs562032379
- gnomAD rs562032379
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0825
- CADD 0.90
- PolyPhen-2 0.01
- SIFT 0.90
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.01)