N122S (p.Asn122Ser) variant of NPC1 (O15118)
N122S (p.Asn122Ser) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N122S (p.Asn122Ser) variant details
- p.Asn122Ser
- TOPMed rs1448273242
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.53
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available