T197K (p.Thr197Lys) variant of ACVRL1 (Activin receptor type-1-like)
T197K (p.Thr197Lys) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Telangiectasia, hereditary hemorrhagic, type 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
T197K (p.Thr197Lys) variant details
- p.Thr197Lys
- rs1555152796
- ClinGen CA384899766
- ClinVar RCV000506991
- ClinVar RCV001577973
- Conflicting interpretations
- not provided; Telangiectasia, hereditary hemorrhagic, type 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Conflicting classifications of pathogenicity (not provided; Telangiectasia, hereditary hemorrhagic, type 2; no)
- EBI: Likely pathogenic (in HHT2)
- UniProt: Likely pathogenic (in HHT2)
- 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)