P54R (p.Pro54Arg) variant of CSF1R (P07333)
P54R (p.Pro54Arg) in CSF1R (P07333) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- ExAC rs752543190
- gnomAD rs752543190
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 3.95
- PolyPhen-2 0.12
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)