G35A (p.Gly35Ala) variant of CSF1R (P07333)
G35A (p.Gly35Ala) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- gnomAD rs1397361181
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 22.50
- PolyPhen-2 0.97
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)