L91R (p.Leu91Arg) variant of CSF1R (P07333)
L91R (p.Leu91Arg) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
L91R (p.Leu91Arg) variant details
- p.Leu91Arg
- rs762581670
- ClinGen CA3507233
- ClinVar RCV003024281
- ExAC rs762581670
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0687
- CADD 0.52
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)