Q104K (p.Gln104Lys) variant of STAT6 (P42226)
Q104K (p.Gln104Lys) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q104K (p.Gln104Lys) variant details
- p.Gln104Lys
- cosmic curated COSV10589
- ESP rs143832217
- ExAC rs143832217
- TOPMed rs143832217
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.05
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available