D91E (p.Asp91Glu) variant of STAT6 (P42226)
D91E (p.Asp91Glu) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D91E (p.Asp91Glu) variant details
- p.Asp91Glu
- rs144249360
- ClinGen CA6642058
- ClinVar RCV002963862
- ESP rs144249360
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.13
- CADD 14.20
- PolyPhen-2 0.19
- SIFT 0.87
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00097)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)