I84F (p.Ile84Phe) variant of SMAD2 (SMAD family member 2)
I84F (p.Ile84Phe) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I84F (p.Ile84Phe) variant details
- p.Ile84Phe
- gnomAD rs1418778323
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.24
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available