S70G (p.Ser70Gly) variant of NPC2 (P61916)
S70G (p.Ser70Gly) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
S70G (p.Ser70Gly) variant details
- p.Ser70Gly
- Ensembl rs1303114527
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- ESM-1b 0.56
- AlphaMissense 0.24
- Structural context available