F54S (p.Phe54Ser) variant of ACVR1 (Activin receptor type-1)
F54S (p.Phe54Ser) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
F54S (p.Phe54Ser) variant details
- p.Phe54Ser
- TOPMed rs1300205903
- gnomAD rs1300205903
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.90
- CADD 29.30
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available