Q106H (p.Gln106His) variant of ACVR1 (Activin receptor type-1)
Q106H (p.Gln106His) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q106H (p.Gln106His) variant details
- p.Gln106His
- ESP rs376138658
- ExAC rs376138658
- TOPMed rs376138658
- gnomAD rs376138658
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.26
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available