I81V (p.Ile81Val) variant of STAT6 (P42226)
I81V (p.Ile81Val) in STAT6 (P42226) is a missense change. Clinical records from ClinVar, EBI, 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 0.35 / 1. The record also includes population frequency data and structural context.
I81V (p.Ile81Val) variant details
- p.Ile81Val
- ExAC rs761099650
- TOPMed rs761099650
- gnomAD rs761099650
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.59
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available