S31S (p.Ser31Ser) variant of TGFBR2 (TGF-beta receptor type-2)
S31S (p.Ser31Ser) in TGFBR2 (TGF-beta receptor type-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S31S (p.Ser31Ser) variant details
- p.Ser31Ser
- gnomAD 3-30606976-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available