E45K (p.Glu45Lys) variant of ACVR1 (Activin receptor type-1)
E45K (p.Glu45Lys) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55118
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.28
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.88
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available