L165* (p.Leu165Ter) variant of STAT6 (P42226)
L165* (p.Leu165Ter) in STAT6 (P42226) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L165* (p.Leu165Ter) variant details
- p.Leu165Ter
- gnomAD rs1254444216
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available