L110P (p.Leu110Pro) variant of NPC2 (P61916)
L110P (p.Leu110Pro) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L110P (p.Leu110Pro) variant details
- p.Leu110Pro
- gnomAD 14-74484449-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 28.40
- PolyPhen-2 0.76
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available