S66G (p.Ser66Gly) variant of CSF1R (P07333)
S66G (p.Ser66Gly) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
S66G (p.Ser66Gly) variant details
- p.Ser66Gly
- rs760878957
- ClinGen CA3507256
- ClinVar RCV002030265
- ExAC rs760878957
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0751
- CADD 1.43
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00062)