S53G (p.Ser53Gly) variant of CSF3R (Q99062)
S53G (p.Ser53Gly) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- gnomAD rs1651086485
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.29
- CADD 17.30
- PolyPhen-2 0.18
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available