E89Q (p.Glu89Gln) variant of NPC2 (P61916)
E89Q (p.Glu89Gln) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E89Q (p.Glu89Gln) variant details
- p.Glu89Gln
- gnomAD rs2086688575
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 19.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available