N44H (p.Asn44His) variant of ACVR1 (Activin receptor type-1)
N44H (p.Asn44His) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N44H (p.Asn44His) variant details
- p.Asn44His
- TOPMed rs1006682010
- gnomAD rs1006682010
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.30
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available