V36E (p.Val36Glu) variant of ACVR1 (Activin receptor type-1)
V36E (p.Val36Glu) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V36E (p.Val36Glu) variant details
- p.Val36Glu
- ESP rs377466501
- ExAC rs377466501
- TOPMed rs377466501
- gnomAD rs377466501
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.90
- CADD 24.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available