A4G (p.Ala4Gly) variant of TGFBR1 (TGF-beta receptor type-1)
A4G (p.Ala4Gly) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- Ensembl rs1331965992
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.25
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available