A39V (p.Ala39Val) variant of RUNX1 (Q01196)
A39V (p.Ala39Val) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- cosmic curated COSV55869
- Ensembl rs2146412392
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available