A482T (p.Ala482Thr) variant of ACVRL1 (Activin receptor type-1-like)
A482T (p.Ala482Thr) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A482T (p.Ala482Thr) variant details
- p.Ala482Thr
- rs777374619
- ClinGen CA6573177
- cosmic curated COSV10971
- ClinVar RCV003510750
- Uncertain significance
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.72
- AlphaMissense 0.48
- MetaLR 0.91
- MetaSVM 1.04
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Variant of uncertain significance (in HHT2)
- UniProt: Uncertain significance (in HHT2)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)