I93V (p.Ile93Val) variant of SMAD2 (SMAD family member 2)
I93V (p.Ile93Val) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I93V (p.Ile93Val) variant details
- p.Ile93Val
- Ensembl rs1568066891
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.31
- CADD 16.90
- PolyPhen-2 0.39
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available