K147E (p.Lys147Glu) variant of PICALM (Q13492)
K147E (p.Lys147Glu) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K147E (p.Lys147Glu) variant details
- p.Lys147Glu
- ExAC rs756054547
- gnomAD rs756054547
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.33
- CADD 27.80
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.4e-05)
- Structural context available