P100T (p.Pro100Thr) variant of NPC2 (P61916)
P100T (p.Pro100Thr) 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 0.86 / 1. The record also includes structural context.
P100T (p.Pro100Thr) variant details
- p.Pro100Thr
- TOPMed rs2086687901
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- ESM-1b 1.00
- AlphaMissense 0.68
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available