P54S (p.Pro54Ser) variant of CSF1R (P07333)
P54S (p.Pro54Ser) in CSF1R (P07333) is a missense change. Clinical records from ClinVar 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 0.06 / 1. The record also includes population frequency data.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- ExAC rs755808680
- TOPMed rs755808680
- gnomAD rs755808680
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.064
- CADD 0.03
- PolyPhen-2 0.06
- SIFT 0.51
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)