D28G (p.Asp28Gly) variant of TGFB2 (P61812)
D28G (p.Asp28Gly) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D28G (p.Asp28Gly) variant details
- p.Asp28Gly
- NCI-TCGA TCGA novel
- Uncertain significance
- Loeys-Dietz syndrome 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.71
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available