F30L (p.Phe30Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
F30L (p.Phe30Leu) in ITK (Tyrosine-protein kinase ITK/TSK) 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 0.46 / 1. The record also includes population frequency data and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- rs756484580
- NCI-TCGA Cosmic COSV1014
- NCI-TCGA Cosmic COSV7006
- ExAC rs756484580
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.64
- CADD 21.40
- PolyPhen-2 0.26
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available