E89D (p.Glu89Asp) variant of NPC2 (P61916)
E89D (p.Glu89Asp) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E89D (p.Glu89Asp) variant details
- p.Glu89Asp
- gnomAD 14-74484511-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available