W10C (p.Trp10Cys) variant of TGFBR2 (TGF-beta receptor type-2)
W10C (p.Trp10Cys) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- gnomAD 3-30606913-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available