F68V (p.Phe68Val) variant of NPC1 (O15118)
F68V (p.Phe68Val) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F68V (p.Phe68Val) variant details
- p.Phe68Val
- TOPMed rs993533047
- gnomAD rs993533047
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.36
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available