C93S (p.Cys93Ser) variant of NPC2 (P61916)
C93S (p.Cys93Ser) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in NPC2. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
C93S (p.Cys93Ser) variant details
- p.Cys93Ser
- ESP rs143960270
- ExAC rs143960270
- gnomAD rs143960270
- Uncertain significance
- in NPC2
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Variant of uncertain significance (in NPC2)
- UniProt: Uncertain significance (in NPC2)
- Structural context available