T277K (p.Thr277Lys) variant of ACVRL1 (Activin receptor type-1-like)
T277K (p.Thr277Lys) 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; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
T277K (p.Thr277Lys) variant details
- p.Thr277Lys
- rs750085854
- ClinGen CA384900472
- ClinVar RCV001211474
- ClinVar RCV001507807
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. (PMID 20414677)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)