G96R (p.Gly96Arg) variant of ACVR1 (Activin receptor type-1)
G96R (p.Gly96Arg) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G96R (p.Gly96Arg) variant details
- p.Gly96Arg
- ExAC rs748419133
- gnomAD rs748419133
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.54
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available