P378S (p.Pro378Ser) variant of ACVRL1 (Activin receptor type-1-like)
P378S (p.Pro378Ser) 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 Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
P378S (p.Pro378Ser) variant details
- p.Pro378Ser
- rs959973779
- ClinGen CA236364916
- ClinVar RCV001001393
- ClinVar RCV002320216
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. (PMID 20414677)
- Cited in: Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary… (PMID 26176610)