G48D (p.Gly48Asp) variant of SETD2 (Q9BYW2)
G48D (p.Gly48Asp) in SETD2 (Q9BYW2) 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 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- rs760120112
- ClinGen CA2363759
- ClinVar RCV004455516
- ExAC rs760120112
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.51
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.0365
- 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)