A19P (p.Ala19Pro) variant of TGFBR1 (TGF-beta receptor type-1)
A19P (p.Ala19Pro) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD 9-99105260-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.47
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available