E49D (p.Glu49Asp) variant of CSF1R (P07333)
E49D (p.Glu49Asp) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- ExAC rs778380548
- gnomAD rs778380548
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 6.50
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)