P52Q (p.Pro52Gln) variant of NPC1 (O15118)
P52Q (p.Pro52Gln) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P52Q (p.Pro52Gln) variant details
- p.Pro52Gln
- gnomAD 18-23522903-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 2.00
- Population evidence available
- Structural context available
- Literature evidence available