G30V (p.Gly30Val) variant of SMAD2 (SMAD family member 2)
G30V (p.Gly30Val) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- TOPMed rs1239673820
- gnomAD rs1239673820
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.40
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available