I38N (p.Ile38Asn) variant of FLT3 (P36888)
I38N (p.Ile38Asn) 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 0.56 / 1. The record also includes population frequency data and structural context.
I38N (p.Ile38Asn) variant details
- p.Ile38Asn
- rs773802462
- ClinGen CA6929021
- ClinVar RCV004109984
- ExAC rs773802462
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.54
- MetaLR 0.50
- MetaSVM 0.08
- CADD 25.70
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available