S41F (p.Ser41Phe) variant of ACVR1 (Activin receptor type-1)
S41F (p.Ser41Phe) 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; Progressive myositis ossificans. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- rs55957214
- ClinGen CA1919216
- ClinVar RCV001133126
- ClinVar RCV001856716
- Uncertain significance
- Inborn genetic diseases; not provided; Progressive myositis ossificans
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.69
- CADD 24.60
- PolyPhen-2 0.63
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Progressive myositis ossi)
- EBI: Variant of uncertain significance (in dbSNP:rs55957214)
- UniProt: Uncertain significance (in dbSNP:rs55957214)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)