E61D (p.Glu61Asp) variant of NPC1 (O15118)
E61D (p.Glu61Asp) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E61D (p.Glu61Asp) variant details
- p.Glu61Asp
- TOPMed rs2059213832
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.46
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available