D46N (p.Asp46Asn) variant of ACVR1 (Activin receptor type-1)
D46N (p.Asp46Asn) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- TOPMed rs1686468140
- gnomAD rs1686468140
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.21
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available