S73G (p.Ser73Gly) variant of TGFB2 (P61812)
S73G (p.Ser73Gly) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S73G (p.Ser73Gly) variant details
- p.Ser73Gly
- rs753391734
- ClinGen CA1398385
- ClinVar RCV002100483
- ExAC rs753391734
- Likely benign
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Loeys-Dietz syndrome 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00085)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)