E30D (p.Glu30Asp) variant of NPC1 (O15118)
E30D (p.Glu30Asp) in NPC1 (O15118) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- TOPMed rs1273070261
- gnomAD rs1273070261
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.64
- CADD 18.60
- PolyPhen-2 0.09
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available