Q88R (p.Gln88Arg) variant of NPC1 (O15118)
Q88R (p.Gln88Arg) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q88R (p.Gln88Arg) variant details
- p.Gln88Arg
- TOPMed rs1599008875
- gnomAD rs1599008875
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.35
- CADD 22.40
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available