I4M (p.Ile4Met) variant of SMAD2 (SMAD family member 2)
I4M (p.Ile4Met) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
I4M (p.Ile4Met) variant details
- p.Ile4Met
- rs2511383810
- ClinGen CA402503712
- ClinVar RCV002597629
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.19
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available