C99S (p.Cys99Ser) variant of ACVR1 (Activin receptor type-1)
C99S (p.Cys99Ser) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C99S (p.Cys99Ser) variant details
- p.Cys99Ser
- TOPMed rs1686458822
- gnomAD rs1686458822
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.97
- CADD 27.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available