Q138* (p.Gln138Ter) variant of STAT6 (P42226)
Q138* (p.Gln138Ter) in STAT6 (P42226) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q138* (p.Gln138Ter) variant details
- p.Gln138Ter
- rs2033598296
- gnomAD 12-57098517-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.22
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available