K30E (p.Lys30Glu) variant of TGFBR2 (TGF-beta receptor type-2)
K30E (p.Lys30Glu) 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.
K30E (p.Lys30Glu) variant details
- p.Lys30Glu
- gnomAD 3-30606971-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.35
- CADD 25.10
- PolyPhen-2 0.00
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available