S186I (p.Ser186Ile) variant of ACVRL1 (Activin receptor type-1-like)
S186I (p.Ser186Ile) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S186I (p.Ser186Ile) variant details
- p.Ser186Ile
- rs1288729113
- ClinGen CA384899596
- ClinVar RCV000695078
- ClinVar RCV002343486
- Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.92
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)