E13K (p.Glu13Lys) variant of BCL2 (Apoptosis regulator Bcl-2)
E13K (p.Glu13Lys) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- gnomAD 18-63318630-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.15
- MetaLR 0.04
- MetaSVM -1.15
- CADD 23.70
- PolyPhen-2 0.59
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available