A23V (p.Ala23Val) variant of TGFBR1 (TGF-beta receptor type-1)
A23V (p.Ala23Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD rs1308498667
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.22
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available