P424S (p.Pro424Ser) variant of ACVRL1 (Activin receptor type-1-like)
P424S (p.Pro424Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
P424S (p.Pro424Ser) variant details
- p.Pro424Ser
- rs1085307419
- ClinGen CA384903729
- ClinVar RCV000507657
- ClinVar RCV005091135
- Pathogenic/Likely pathogenic
- not specified; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (not specified; Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- 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)