I14V (p.Ile14Val) variant of ACVR1 (Activin receptor type-1)
I14V (p.Ile14Val) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- rs773936526
- ClinGen CA349194153
- ClinVar RCV003022685
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available