V198E (p.Val198Glu) variant of ACVRL1 (Activin receptor type-1-like)
V198E (p.Val198Glu) 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 arterial hypertension related to hereditary hemorrhagic telangiectasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
V198E (p.Val198Glu) variant details
- p.Val198Glu
- rs886043123
- ClinGen CA384899778
- ClinVar RCV000488655
- Ensembl rs886043123
- Pathogenic
- Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.94
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.70
- ClinVar: Pathogenic (Pulmonary arterial hypertension related to hereditary hemorrhagi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available