E29K (p.Glu29Lys) variant of CSF1R (P07333)
E29K (p.Glu29Lys) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- ESP rs148727692
- ExAC rs148727692
- gnomAD rs148727692
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 22.50
- PolyPhen-2 0.72
- SIFT 0.13
- Most common in the South Asian population (allele frequency 4.6e-05)