R135Q (p.Arg135Gln) variant of STAT6 (P42226)
R135Q (p.Arg135Gln) in STAT6 (P42226) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R135Q (p.Arg135Gln) variant details
- p.Arg135Gln
- ExAC rs746789941
- TOPMed rs746789941
- gnomAD rs746789941
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.11
- CADD 5.29
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available