T55A (p.Thr55Ala) variant of SMAD2 (SMAD family member 2)
T55A (p.Thr55Ala) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.38
- CADD 23.90
- PolyPhen-2 0.49
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available