N335S (p.Asn335Ser) variant of ACVRL1 (Activin receptor type-1-like)
N335S (p.Asn335Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N335S (p.Asn335Ser) variant details
- p.Asn335Ser
- rs1060503247
- ClinGen CA384901591
- ClinVar RCV002005117
- ClinVar RCV004990523
- Conflicting interpretations
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.87
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Likely pathogenic (in HHT2)
- UniProt: Likely pathogenic (in HHT2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)
- Cited in: International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. (PMID 19553198)