T45M (p.Thr45Met) variant of SMAD3 (SMAD family member 3)
T45M (p.Thr45Met) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T45M (p.Thr45Met) variant details
- p.Thr45Met
- Ensembl rs2140188999
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.36
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available