G4E (p.Gly4Glu) variant of ACVR1 (Activin receptor type-1)
G4E (p.Gly4Glu) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- rs1203606345
- ClinGen CA349194214
- ClinVar RCV002166093
- gnomAD rs1203606345
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available