R7M (p.Arg7Met) variant of TGFBR2 (TGF-beta receptor type-2)
R7M (p.Arg7Met) in TGFBR2 (TGF-beta receptor type-2) 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 0.45 / 1. The record also includes population frequency data and structural context.
R7M (p.Arg7Met) variant details
- p.Arg7Met
- TOPMed rs1697932736
- gnomAD rs1697932736
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.16
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available