K68E (p.Lys68Glu) variant of NPC2 (P61916)
K68E (p.Lys68Glu) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
K68E (p.Lys68Glu) variant details
- p.Lys68Glu
- rs750426509
- ClinGen CA390532585
- ClinVar RCV001966904
- ExAC rs750426509
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- ESM-1b 0.12
- AlphaMissense 0.09
- MetaLR 0.41
- MetaSVM -0.80
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)