S69* (p.Ser69Ter) variant of NPC2 (P61916)
S69* (p.Ser69Ter) in NPC2 (P61916) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S69* (p.Ser69Ter) variant details
- p.Ser69Ter
- ExAC rs769572626
- gnomAD rs769572626
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available