S333I (p.Ser333Ile) variant of ACVRL1 (Activin receptor type-1-like)
S333I (p.Ser333Ile) 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 Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
S333I (p.Ser333Ile) variant details
- p.Ser333Ile
- rs863223413
- ClinGen CA322708
- ClinVar RCV000198205
- ClinVar RCV000762899
- Pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (PMID 10767348)
- Cited in: Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to… (PMID 14684682)