Y572H (p.Tyr572His) variant of FLT3 (P36888)
Y572H (p.Tyr572His) in FLT3 (P36888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple myeloma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Y572H (p.Tyr572His) variant details
- p.Tyr572His
- rs1208575764
- ClinGen CA387641130
- ClinVar RCV000984136
- gnomAD rs1208575764
- Likely pathogenic
- Multiple myeloma
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.85
- MetaLR 0.69
- MetaSVM 0.51
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple myeloma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available