A109V (p.Ala109Val) variant of STAT6 (P42226)
A109V (p.Ala109Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
A109V (p.Ala109Val) variant details
- p.Ala109Val
- 1000Genomes rs570858641
- ExAC rs570858641
- TOPMed rs570858641
- gnomAD rs570858641
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.09
- CADD 19.10
- PolyPhen-2 0.14
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available