W10A (p.Trp10Ala) variant of TGFBR2 (TGF-beta receptor type-2)
W10A (p.Trp10Ala) in TGFBR2 (TGF-beta receptor type-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
W10A (p.Trp10Ala) variant details
- p.Trp10Ala
- gnomAD 3-30606908-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available