Y39C (p.Tyr39Cys) variant of FTO (Q9C0B1)
Y39C (p.Tyr39Cys) in FTO (Q9C0B1) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- rs769612021
- ClinGen CA8058290
- ClinVar RCV002678452
- ExAC rs769612021
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.47
- CADD 24.00
- PolyPhen-2 0.85
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)