Y33* (p.Tyr33Ter) variant of ACVR1 (Activin receptor type-1)
Y33* (p.Tyr33Ter) in ACVR1 (Activin receptor type-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- rs201453468
- ClinGen CA349194009
- ClinVar RCV002022515
- 1000Genomes rs201453468
- Benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 35.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available