C16R (p.Cys16Arg) variant of NPC1 (O15118)
C16R (p.Cys16Arg) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C16R (p.Cys16Arg) variant details
- p.Cys16Arg
- TOPMed rs2073238157
- gnomAD rs2073238157
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available