G9S (p.Gly9Ser) variant of NPC1 (O15118)
G9S (p.Gly9Ser) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- rs1365975754
- ClinGen CA402041526
- ClinVar RCV002738319
- TOPMed rs1365975754
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.29
- CADD 2.63
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)