L110L (p.Leu110Leu) variant of NPC2 (P61916)
L110L (p.Leu110Leu) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L110L (p.Leu110Leu) variant details
- p.Leu110Leu
- rs762424530
- gnomAD 14-74484448-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available