L28P (p.Leu28Pro) variant of TGFBR1 (TGF-beta receptor type-1)
L28P (p.Leu28Pro) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 9-99105288-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.27
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available