A15G (p.Ala15Gly) variant of ACVR1 (Activin receptor type-1)
A15G (p.Ala15Gly) 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 not specified; not provided; Progressive myositis ossificans. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- rs13406336
- ClinGen CA1919257
- ClinVar RCV000243523
- ClinVar RCV000350817
- Benign/Likely benign
- not specified; not provided; Progressive myositis ossificans
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Benign/Likely benign (not specified; not provided; Progressive myositis ossificans)
- EBI: Benign (in dbSNP:rs13406336)
- UniProt: Benign (in dbSNP:rs13406336)
- Most common in the HGDP:PATHAN population (allele frequency 0.17)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Fibrodysplasia Ossificans Progressiva. (PMID 32525643)