T35M (p.Thr35Met) variant of ACVRL1 (Activin receptor type-1-like)
T35M (p.Thr35Met) 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 Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T35M (p.Thr35Met) variant details
- p.Thr35Met
- rs376537508
- ClinGen CA6572815
- ClinVar RCV002401089
- ClinVar RCV005008573
- Uncertain significance
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.31
- CADD 11.80
- PolyPhen-2 0.15
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)