G96R (p.Gly96Arg) variant of NPC2 (P61916)
G96R (p.Gly96Arg) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G96R (p.Gly96Arg) variant details
- p.Gly96Arg
- TOPMed rs996404779
- gnomAD rs996404779
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 29.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available