E89E (p.Glu89Glu) variant of NPC2 (P61916)
E89E (p.Glu89Glu) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E89E (p.Glu89Glu) variant details
- p.Glu89Glu
- rs1391975409
- gnomAD 14-74484511-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 8.35
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available