L27V (p.Leu27Val) variant of TGFBR1 (TGF-beta receptor type-1)
L27V (p.Leu27Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 9-99105284-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.12
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available