W50L (p.Trp50Leu) variant of CSF1R (P07333)
W50L (p.Trp50Leu) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, 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 0.77 / 1. The record also includes population frequency data.
W50L (p.Trp50Leu) variant details
- p.Trp50Leu
- rs1561940695
- ClinGen CA361737085
- ClinVar RCV003556976
- Ensembl rs1561940695
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)