K30M (p.Lys30Met) variant of TGFBR2 (TGF-beta receptor type-2)
K30M (p.Lys30Met) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K30M (p.Lys30Met) variant details
- p.Lys30Met
- gnomAD 3-30606972-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.54
- CADD 25.20
- PolyPhen-2 0.09
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available