G386V (p.Gly386Val) variant of TBX3 (T-box transcription factor TBX3)
G386V (p.Gly386Val) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ulnar-mammary syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature.
G386V (p.Gly386Val) variant details
- p.Gly386Val
- rs2121385552
- ClinGen CA386869619
- ClinVar RCV002921611
- Uncertain significance
- Ulnar-mammary syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.07
- MetaLR 0.42
- MetaSVM -0.72
- PolyPhen-2 0.00
- SIFT 0.20
- MutPred 0.27
- ClinVar: Uncertain significance (Ulnar-mammary syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)