G5S (p.Gly5Ser) variant of NPC1 (O15118)
G5S (p.Gly5Ser) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- TOPMed rs1217477927
- gnomAD rs1217477927
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.11
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available