Y33F (p.Tyr33Phe) variant of ACVR1 (Activin receptor type-1)
Y33F (p.Tyr33Phe) 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.
Y33F (p.Tyr33Phe) variant details
- p.Tyr33Phe
- Ensembl rs1686470351
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available