P26L (p.Pro26Leu) variant of ACVRL1 (Activin receptor type-1-like)
P26L (p.Pro26Leu) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs199542304
- ClinGen CA6572806
- ClinVar RCV000865909
- ClinVar RCV005540204
- Benign/Likely benign
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.31
- CADD 17.40
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- 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)