P52L (p.Pro52Leu) variant of NPC1 (O15118)
P52L (p.Pro52Leu) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD rs2059232254
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available