F66F (p.Phe66Phe) variant of NPC1 (O15118)
F66F (p.Phe66Phe) in NPC1 (O15118) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F66F (p.Phe66Phe) variant details
- p.Phe66Phe
- gnomAD 18-23522899-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 2.13
- Population evidence available
- Structural context available
- Literature evidence available