R90K (p.Arg90Lys) variant of STAT6 (P42226)
R90K (p.Arg90Lys) 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 0.40 / 1. The record also includes population frequency data and structural context.
R90K (p.Arg90Lys) variant details
- p.Arg90Lys
- gnomAD rs1274836401
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.13
- CADD 23.70
- PolyPhen-2 0.52
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available