S95F (p.Ser95Phe) variant of NPC1 (O15118)
S95F (p.Ser95Phe) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S95F (p.Ser95Phe) variant details
- p.Ser95Phe
- ExAC rs762610198
- gnomAD rs762610198
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.64
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available