D89E (p.Asp89Glu) variant of CSF1R (P07333)
D89E (p.Asp89Glu) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
D89E (p.Asp89Glu) variant details
- p.Asp89Glu
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99643
- ESP rs143080503
- ExAC rs143080503
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 7.77
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)