F63S (p.Phe63Ser) variant of ACVR1 (Activin receptor type-1)
F63S (p.Phe63Ser) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F63S (p.Phe63Ser) variant details
- p.Phe63Ser
- rs764818005
- ClinGen CA1919208
- ClinVar RCV003056149
- ExAC rs764818005
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.40
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available