S38N (p.Ser38Asn) variant of ACVRL1 (Activin receptor type-1-like)
S38N (p.Ser38Asn) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- rs1257219446
- ClinGen CA384897562
- ClinVar RCV002667875
- TOPMed rs1257219446
- Uncertain significance
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.32
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)