S86F (p.Ser86Phe) variant of ACVR1 (Activin receptor type-1)
S86F (p.Ser86Phe) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S86F (p.Ser86Phe) variant details
- p.Ser86Phe
- ExAC rs773459224
- TOPMed rs773459224
- gnomAD rs773459224
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.63
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available