Q121R (p.Gln121Arg) variant of FLT3 (P36888)
Q121R (p.Gln121Arg) in FLT3 (P36888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
Q121R (p.Gln121Arg) variant details
- p.Gln121Arg
- gnomAD rs1370805863
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.03
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available