K17E (p.Lys17Glu) variant of BCL2 (Apoptosis regulator Bcl-2)
K17E (p.Lys17Glu) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K17E (p.Lys17Glu) variant details
- p.Lys17Glu
- cosmic curated COSV61389
- ExAC rs780634396
- TOPMed rs780634396
- gnomAD rs780634396
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.05
- CADD 28.30
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available