H312Q (p.His312Gln) variant of ACVRL1 (Activin receptor type-1-like)
H312Q (p.His312Gln) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H312Q (p.His312Gln) variant details
- p.His312Gln
- rs1085307412
- ClinGen CA384901156
- cosmic curated COSV66360
- ClinVar RCV000488872
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.65
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)