T37M (p.Thr37Met) variant of CSF1R (P07333)
T37M (p.Thr37Met) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Brain abnormalities, neurodegeneration, and dysosteosclerosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
T37M (p.Thr37Met) variant details
- p.Thr37Met
- rs139635308
- ClinGen CA3507280
- cosmic curated COSV53828
- ClinVar RCV002214913
- Conflicting interpretations
- Brain abnormalities, neurodegeneration, and dysosteosclerosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0617
- CADD 1.31
- PolyPhen-2 0.05
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Brain abnormalities, neurodegeneration, and dysosteosclerosis; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0098)