E29Q (p.Glu29Gln) variant of CSF1R (P07333)
E29Q (p.Glu29Gln) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- ESP rs148727692
- ExAC rs148727692
- gnomAD rs148727692
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 21.60
- Most common in the African/African-American population (allele frequency 2.4e-05)