N98S (p.Asn98Ser) variant of ACVRL1 (Activin receptor type-1-like)
N98S (p.Asn98Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
N98S (p.Asn98Ser) variant details
- p.Asn98Ser
- rs1085307406
- ClinGen CA384898102
- ClinVar RCV000488635
- ClinVar RCV000795036
- Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.11
- MetaLR 0.78
- MetaSVM 0.48
- PolyPhen-2 0.91
- SIFT 0.06
- MutPred 0.86
- ClinVar: Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)