E187D (p.Glu187Asp) variant of PICALM (Q13492)
E187D (p.Glu187Asp) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E187D (p.Glu187Asp) variant details
- p.Glu187Asp
- TOPMed rs1300270545
- gnomAD rs1300270545
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available