P23L (p.Pro23Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
P23L (p.Pro23Leu) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a metastatic melanoma sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- UniProt VAR 041711
- Uncertain significance
- in a metastatic melanoma sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.77
- ESM-1b 0.86
- AlphaMissense 0.90
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in a metastatic melanoma sample)
- UniProt: Uncertain significance (in a metastatic melanoma sample)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)