T98I (p.Thr98Ile) variant of SMAD2 (SMAD family member 2)
T98I (p.Thr98Ile) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T98I (p.Thr98Ile) variant details
- p.Thr98Ile
- gnomAD rs1312562947
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.36
- CADD 23.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available