V83L (p.Val83Leu) variant of NPC2 (P61916)
V83L (p.Val83Leu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V83L (p.Val83Leu) variant details
- p.Val83Leu
- TOPMed rs1399142643
- gnomAD rs1399142643
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 4.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available