E22Q (p.Glu22Gln) variant of ACVR1 (Activin receptor type-1)
E22Q (p.Glu22Gln) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- rs1473120013
- ClinGen CA349194102
- ClinVar RCV003712042
- gnomAD rs1473120013
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.32
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available