P115L (p.Pro115Leu) variant of NPC1 (O15118)
P115L (p.Pro115Leu) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P115L (p.Pro115Leu) variant details
- p.Pro115Leu
- gnomAD rs1472786529
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.94
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available