H84Q (p.His84Gln) variant of PICALM (Q13492)
H84Q (p.His84Gln) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H84Q (p.His84Gln) variant details
- p.His84Gln
- ESP rs371017558
- ExAC rs371017558
- gnomAD rs371017558
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.34
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available