S50L (p.Ser50Leu) variant of FLT3 (P36888)
S50L (p.Ser50Leu) in FLT3 (P36888) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S50L (p.Ser50Leu) variant details
- p.Ser50Leu
- rs757157975
- NCI-TCGA Cosmic COSV5404
- ExAC rs757157975
- TOPMed rs757157975
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.70
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available