L60V (p.Leu60Val) variant of CSF1R (P07333)
L60V (p.Leu60Val) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
L60V (p.Leu60Val) variant details
- p.Leu60Val
- 1000Genomes rs55865465
- ExAC rs55865465
- TOPMed rs55865465
- gnomAD rs55865465
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 7.71
- PolyPhen-2 0.06
- SIFT 0.43
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)