T2I (p.Thr2Ile) variant of ACVRL1 (Activin receptor type-1-like)
T2I (p.Thr2Ile) 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 not provided; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- rs373062714
- ClinGen CA6572777
- ClinVar RCV001054999
- ClinVar RCV005432552
- Uncertain significance
- not provided; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.27
- CADD 8.74
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- 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)