T76A (p.Thr76Ala) variant of SMAD2 (SMAD family member 2)
T76A (p.Thr76Ala) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
T76A (p.Thr76Ala) variant details
- p.Thr76Ala
- gnomAD rs1374795369
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.83
- CADD 26.90
- PolyPhen-2 0.80
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available