I4V (p.Ile4Val) variant of SMAD3 (SMAD family member 3)
I4V (p.Ile4Val) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- gnomAD rs1405891269
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available