E75G (p.Glu75Gly) variant of ACVR1 (Activin receptor type-1)
E75G (p.Glu75Gly) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E75G (p.Glu75Gly) variant details
- p.Glu75Gly
- TOPMed rs1176995618
- gnomAD rs1176995618
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.91
- CADD 29.30
- PolyPhen-2 0.64
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available