E29K (p.Glu29Lys) variant of BCL2 (Apoptosis regulator Bcl-2)
E29K (p.Glu29Lys) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- cosmic curated COSV61394
- TOPMed rs1913586694
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -0.90
- CADD 21.40
- PolyPhen-2 0.43
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available