E20* (p.Glu20Ter) variant of NPC2 (P61916)
E20* (p.Glu20Ter) in NPC2 (P61916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E20* (p.Glu20Ter) variant details
- p.Glu20Ter
- rs80358260
- ClinGen CA340788
- ClinVar RCV000008998
- ClinVar RCV000586093
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00018)
- Structural context available
- Cited in: Identification of HE1 as the second gene of Niemann-Pick C disease. (PMID 11125141)
- Cited in: Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. (PMID 11567215)