H63Q (p.His63Gln) variant of STAT6 (P42226)
H63Q (p.His63Gln) in STAT6 (P42226) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
H63Q (p.His63Gln) variant details
- p.His63Gln
- ExAC rs777452521
- TOPMed rs777452521
- gnomAD rs777452521
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.12
- CADD 2.66
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available