A12E (p.Ala12Glu) variant of NPC2 (P61916)
A12E (p.Ala12Glu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- TOPMed rs981046790
- gnomAD rs981046790
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 11.00
- PolyPhen-2 0.41
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available