P86L (p.Pro86Leu) variant of NPC2 (P61916)
P86L (p.Pro86Leu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
P86L (p.Pro86Leu) variant details
- p.Pro86Leu
- rs4688
- UniProt VAR 011899
- TOPMed rs4688
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- ESM-1b 0.88
- AlphaMissense 0.27
- MetaLR 0.52
- MetaSVM -0.14
- PolyPhen-2 0.99
- SIFT 0.01
- Structural context available