E7K (p.Glu7Lys) variant of BCL2L1 (Bcl-2-like protein 1)
E7K (p.Glu7Lys) in BCL2L1 (Bcl-2-like protein 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.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- gnomAD rs1320914743
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.36
- CADD 27.30
- PolyPhen-2 0.81
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available