H121Y (p.His121Tyr) variant of ACVR1 (Activin receptor type-1)
H121Y (p.His121Tyr) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H121Y (p.His121Tyr) variant details
- p.His121Tyr
- rs756858830
- ClinGen CA1919172
- ClinVar RCV001091995
- ClinVar RCV005359865
- Uncertain significance
- Inborn genetic diseases; not provided; Congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.24
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Congenital heart disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of… (PMID 19038677)
- Cited in: 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of… (PMID 30121239)