P47L (p.Pro47Leu) variant of NPC1 (O15118)
P47L (p.Pro47Leu) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- TOPMed rs2059232372
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.54
- CADD 25.90
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available