R4C (p.Arg4Cys) variant of NPC1 (O15118)
R4C (p.Arg4Cys) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R4C (p.Arg4Cys) variant details
- p.Arg4Cys
- TOPMed rs1022742391
- gnomAD rs1022742391
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.23
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available