G27V (p.Gly27Val) variant of SMAD2 (SMAD family member 2)
G27V (p.Gly27Val) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- TOPMed rs1186363719
- gnomAD rs1186363719
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.38
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available