A12S (p.Ala12Ser) variant of NPC2 (P61916)
A12S (p.Ala12Ser) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- TOPMed rs970145012
- gnomAD rs970145012
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available