K78E (p.Lys78Glu) variant of ACVR1 (Activin receptor type-1)
K78E (p.Lys78Glu) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K78E (p.Lys78Glu) variant details
- p.Lys78Glu
- gnomAD rs1240600134
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available