A6S (p.Ala6Ser) variant of TGFBR1 (TGF-beta receptor type-1)
A6S (p.Ala6Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 9-99105221-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.30
- CADD 23.40
- PolyPhen-2 0.52
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available