K54I (p.Lys54Ile) variant of SMAD2 (SMAD family member 2)
K54I (p.Lys54Ile) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
K54I (p.Lys54Ile) variant details
- p.Lys54Ile
- gnomAD rs1445838443
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.65
- CADD 29.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available