T66I (p.Thr66Ile) variant of SMAD2 (SMAD family member 2)
T66I (p.Thr66Ile) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- TOPMed rs2033447144
- gnomAD rs2033447144
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.60
- CADD 26.10
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available