P84L (p.Pro84Leu) variant of NPC2 (P61916)
P84L (p.Pro84Leu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P84L (p.Pro84Leu) variant details
- p.Pro84Leu
- TOPMed rs1432578885
- gnomAD rs1432578885
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 25.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available