P401S (p.Pro401Ser) variant of NPC1 (O15118)
P401S (p.Pro401Ser) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P401S (p.Pro401Ser) variant details
- p.Pro401Ser
- ExAC rs766301620
- TOPMed rs766301620
- gnomAD rs766301620
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.78
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available