A6V (p.Ala6Val) variant of TGFBR1 (TGF-beta receptor type-1)
A6V (p.Ala6Val) 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.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 9-99105222-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.38
- CADD 24.00
- PolyPhen-2 0.48
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available