S67N (p.Ser67Asn) variant of CSF1R (P07333)
S67N (p.Ser67Asn) 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 0.30 / 1. The record also includes population frequency data.
S67N (p.Ser67Asn) variant details
- p.Ser67Asn
- rs147989288
- ClinGen CA3507254
- ClinVar RCV002003354
- ClinVar RCV004752122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 7.50
- PolyPhen-2 0.05
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)