G48R (p.Gly48Arg) variant of FLT3 (P36888)
G48R (p.Gly48Arg) in FLT3 (P36888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- ExAC rs780849820
- TOPMed rs780849820
- gnomAD rs780849820
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -1.02
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available