K68* (p.Lys68Ter) variant of NPC2 (P61916)
K68* (p.Lys68Ter) 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 0.52 / 1. The record also includes population frequency data and structural context.
K68* (p.Lys68Ter) variant details
- p.Lys68Ter
- ExAC rs750426509
- TOPMed rs750426509
- gnomAD rs750426509
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 0.09
- MetaLR 0.41
- MetaSVM -0.80
- CADD 32.00
- PolyPhen-2 0.01
- SIFT 0.22
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available