P30R (p.Pro30Arg) variant of ACVR1 (Activin receptor type-1)
P30R (p.Pro30Arg) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- TOPMed rs1364644712
- gnomAD rs1364644712
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.28
- CADD 16.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available