F67Y (p.Phe67Tyr) variant of NPC1 (O15118)
F67Y (p.Phe67Tyr) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F67Y (p.Phe67Tyr) variant details
- p.Phe67Tyr
- TOPMed rs1402286009
- gnomAD rs1402286009
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.37
- CADD 22.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available