L113L (p.Leu113Leu) variant of NPC2 (P61916)
L113L (p.Leu113Leu) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L113L (p.Leu113Leu) variant details
- p.Leu113Leu
- gnomAD 14-74484439-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.093
- CADD 1.75
- Population evidence available
- Structural context available
- Literature evidence available