H84Y (p.His84Tyr) variant of PICALM (Q13492)
H84Y (p.His84Tyr) in PICALM (Q13492) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
H84Y (p.His84Tyr) variant details
- p.His84Tyr
- TOPMed rs948382845
- gnomAD rs948382845
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.62
- CADD 28.00
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available