E49K (p.Glu49Lys) variant of ACVR1 (Activin receptor type-1)
E49K (p.Glu49Lys) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- gnomAD rs1219953789
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.33
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available