G8D (p.Gly8Asp) variant of TGFBR2 (TGF-beta receptor type-2)
G8D (p.Gly8Asp) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- ExAC rs777080264
- gnomAD rs777080264
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.51
- CADD 29.40
- PolyPhen-2 0.26
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available