I59F (p.Ile59Phe) variant of ACVR1 (Activin receptor type-1)
I59F (p.Ile59Phe) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I59F (p.Ile59Phe) variant details
- p.Ile59Phe
- gnomAD rs1296302175
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.48
- CADD 19.40
- PolyPhen-2 0.22
- SIFT 0.72
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available