L4P (p.Leu4Pro) variant of NPC2 (P61916)
L4P (p.Leu4Pro) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- Ensembl rs1436257362
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- ESM-1b 0.60
- AlphaMissense 0.12
- Structural context available