D348N (p.Asp348Asn) variant of ACVRL1 (Activin receptor type-1-like)
D348N (p.Asp348Asn) 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 0.96 / 1. The record also includes published literature and structural context.
D348N (p.Asp348Asn) variant details
- p.Asp348Asn
- rs1940813954
- ClinGen CA384901834
- ClinVar RCV003311082
- ClinVar RCV005102802
- Conflicting interpretations
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)