I34M (p.Ile34Met) variant of PICALM (Q13492)
I34M (p.Ile34Met) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I34M (p.Ile34Met) variant details
- p.Ile34Met
- 1000Genomes rs146840505
- ESP rs146840505
- ExAC rs146840505
- TOPMed rs146840505
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.07
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available