K94* (p.Lys94Ter) variant of NPC2 (P61916)
K94* (p.Lys94Ter) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K94* (p.Lys94Ter) variant details
- p.Lys94Ter
- rs1376058648
- ClinGen CA615195087
- ClinVar RCV001388699
- ClinVar RCV003120598
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)