A24S (p.Ala24Ser) variant of TGFBR1 (TGF-beta receptor type-1)
A24S (p.Ala24Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD 9-99105275-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.25
- CADD 17.90
- PolyPhen-2 0.36
- SIFT 0.96
- Population evidence available
- Structural context available
- Literature evidence available