P52T (p.Pro52Thr) variant of NPC1 (O15118)
P52T (p.Pro52Thr) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- gnomAD 18-23522904-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 1.51
- Population evidence available
- Structural context available
- Literature evidence available