L113I (p.Leu113Ile) variant of NPC2 (P61916)
L113I (p.Leu113Ile) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L113I (p.Leu113Ile) variant details
- p.Leu113Ile
- gnomAD 14-74484441-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.54
- ESM-1b 0.66
- AlphaMissense 0.30
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available