F66S (p.Phe66Ser) variant of NPC1 (O15118)
F66S (p.Phe66Ser) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
F66S (p.Phe66Ser) variant details
- p.Phe66Ser
- gnomAD 18-23522900-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.33
- Population evidence available
- Structural context available
- Literature evidence available