N34I (p.Asn34Ile) variant of SMAD2 (SMAD family member 2)
N34I (p.Asn34Ile) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N34I (p.Asn34Ile) variant details
- p.Asn34Ile
- gnomAD rs1239631809
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.56
- CADD 28.20
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available