R83H (p.Arg83His) variant of CSF1R (P07333)
R83H (p.Arg83His) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
R83H (p.Arg83His) variant details
- p.Arg83His
- rs761230419
- ClinGen CA3507240
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99643
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0618
- CADD 0.71
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00069)