R4H (p.Arg4His) variant of NPC1 (O15118)
R4H (p.Arg4His) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R4H (p.Arg4His) variant details
- p.Arg4His
- Ensembl rs2059418709
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.26
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available