S18Y (p.Ser18Tyr) variant of ACVR1 (Activin receptor type-1)
S18Y (p.Ser18Tyr) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- gnomAD rs1383805044
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.40
- CADD 20.60
- PolyPhen-2 0.35
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available