C27G (p.Cys27Gly) variant of NPC2 (P61916)
C27G (p.Cys27Gly) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C27G (p.Cys27Gly) variant details
- p.Cys27Gly
- gnomAD rs1293797925
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 25.30
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available