V83F (p.Val83Phe) variant of NPC2 (P61916)
V83F (p.Val83Phe) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V83F (p.Val83Phe) variant details
- p.Val83Phe
- TOPMed rs1399142643
- gnomAD rs1399142643
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.55
- ESM-1b 0.22
- AlphaMissense 0.33
- CADD 16.90
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available