A66V (p.Ala66Val) variant of FLT3 (P36888)
A66V (p.Ala66Val) in FLT3 (P36888) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data and structural context.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- ExAC rs764656426
- TOPMed rs764656426
- gnomAD rs764656426
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.06
- MetaLR 0.23
- MetaSVM -0.92
- CADD 7.99
- PolyPhen-2 0.02
- SIFT 0.51
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available