A352D (p.Ala352Asp) variant of ACVRL1 (Activin receptor type-1-like)
A352D (p.Ala352Asp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not specified; Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular ph. 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.
A352D (p.Ala352Asp) variant details
- p.Ala352Asp
- rs1085307415
- ClinGen CA384901981
- ClinVar RCV000488852
- ClinVar RCV000507211
- Pathogenic/Likely pathogenic
- not specified; Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular ph
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.81
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.76
- CADD 27.20
- PolyPhen-2 0.91
- ClinVar: Pathogenic/Likely pathogenic (not specified; Telangiectasia, hereditary hemorrhagic, type 2; C)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)