A478D (p.Ala478Asp) variant of ACVRL1 (Activin receptor type-1-like)
A478D (p.Ala478Asp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
A478D (p.Ala478Asp) variant details
- p.Ala478Asp
- rs1085307425
- ClinGen CA384905673
- ClinVar RCV000488621
- Ensembl rs1085307425
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.98
- MetaLR 0.37
- MetaSVM -0.24
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.46
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)