G42E (p.Gly42Glu) variant of TGFB2 (P61812)
G42E (p.Gly42Glu) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- rs1558220033
- ClinGen CA344725341
- ClinVar RCV001939222
- Ensembl rs1558220033
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)