H47Q (p.His47Gln) variant of ACVR1 (Activin receptor type-1)
H47Q (p.His47Gln) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Multiple congenital anomalies/dysmorphic syndrome; not provided; Progressive myo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H47Q (p.His47Gln) variant details
- p.His47Gln
- rs34056189
- ClinGen CA1919213
- ClinVar RCV000406342
- ClinVar RCV000885757
- Benign/Likely benign
- Multiple congenital anomalies/dysmorphic syndrome; not provided; Progressive myo
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.24
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Benign/Likely benign (Multiple congenital anomalies/dysmorphic syndrome; not provided;)
- EBI: Benign (in dbSNP:rs34056189)
- UniProt: Benign (in dbSNP:rs34056189)
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Fibrodysplasia Ossificans Progressiva. (PMID 32525643)