E38Q (p.Glu38Gln) variant of TGFB2 (P61812)
E38Q (p.Glu38Gln) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E38Q (p.Glu38Gln) variant details
- p.Glu38Gln
- rs1656697535
- ClinGen CA344725312
- ClinVar RCV002731634
- Ensembl rs1656697535
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.56
- CADD 29.20
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)