G8V (p.Gly8Val) variant of TGFBR2 (TGF-beta receptor type-2)
G8V (p.Gly8Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- gnomAD 3-30606906-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.54
- CADD 29.10
- PolyPhen-2 0.20
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available