L110R (p.Leu110Arg) variant of NPC2 (P61916)
L110R (p.Leu110Arg) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L110R (p.Leu110Arg) variant details
- p.Leu110Arg
- gnomAD 14-74484449-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 27.20
- PolyPhen-2 0.63
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available