D21N (p.Asp21Asn) variant of STAT6 (P42226)
D21N (p.Asp21Asn) 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 0.36 / 1. The record also includes population frequency data and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- cosmic curated COSV10460
- ExAC rs771572649
- TOPMed rs771572649
- gnomAD rs771572649
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.09
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available