A7S (p.Ala7Ser) variant of TGFBR1 (TGF-beta receptor type-1)
A7S (p.Ala7Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 9-99105224-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.24
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available