C75W (p.Cys75Trp) variant of NPC1 (O15118)
C75W (p.Cys75Trp) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C75W (p.Cys75Trp) variant details
- p.Cys75Trp
- ExAC rs755230322
- gnomAD rs755230322
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.91
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available