A23S (p.Ala23Ser) variant of TGFBR1 (TGF-beta receptor type-1)
A23S (p.Ala23Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 9-99105272-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available