S22I (p.Ser22Ile) variant of TGFBR2 (TGF-beta receptor type-2)
S22I (p.Ser22Ile) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- gnomAD 3-30606948-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.26
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available