G44S (p.Gly44Ser) variant of STAT6 (P42226)
G44S (p.Gly44Ser) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G44S (p.Gly44Ser) variant details
- p.Gly44Ser
- rs757430778
- ClinGen CA237746607
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55670
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.11
- CADD 13.30
- PolyPhen-2 0.01
- 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 0.00012)
- 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)