L6M (p.Leu6Met) variant of BTK (Tyrosine-protein kinase BTK)
L6M (p.Leu6Met) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD rs1320514510
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.45
- CADD 23.80
- PolyPhen-2 0.58
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0581