E45G (p.Glu45Gly) variant of ACVR1 (Activin receptor type-1)
E45G (p.Glu45Gly) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- cosmic curated COSV55119
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available