S47N (p.Ser47Asn) variant of CSF1R (P07333)
S47N (p.Ser47Asn) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
S47N (p.Ser47Asn) variant details
- p.Ser47Asn
- cosmic curated COSV10513
- Ensembl rs2113833507
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 10.90
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)