G32R (p.Gly32Arg) variant of NPC1 (O15118)
G32R (p.Gly32Arg) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- ExAC rs765731953
- gnomAD rs765731953
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.87
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available