S95P (p.Ser95Pro) variant of NPC1 (O15118)
S95P (p.Ser95Pro) in NPC1 (O15118) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S95P (p.Ser95Pro) variant details
- p.Ser95Pro
- TOPMed rs1008764923
- gnomAD rs1008764923
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.77
- CADD 24.60
- PolyPhen-2 0.37
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available