G52* (p.Gly52Ter) variant of NPC2 (P61916)
G52* (p.Gly52Ter) in NPC2 (P61916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G52* (p.Gly52Ter) variant details
- p.Gly52Ter
- rs2506107168
- ClinGen CA390532704
- ClinVar RCV002309360
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)