T271R (p.Thr271Arg) variant of ACVRL1 (Activin receptor type-1-like)
T271R (p.Thr271Arg) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
T271R (p.Thr271Arg) variant details
- p.Thr271Arg
- rs2139072795
- ClinGen CA384900417
- ClinVar RCV002815579
- Uncertain significance
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.61
- ClinVar: Uncertain significance (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)