L78P (p.Leu78Pro) variant of NPC2 (P61916)
L78P (p.Leu78Pro) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L78P (p.Leu78Pro) variant details
- p.Leu78Pro
- ExAC rs747302449
- TOPMed rs747302449
- gnomAD rs747302449
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available