H20Q (p.His20Gln) variant of BCL2 (Apoptosis regulator Bcl-2)
H20Q (p.His20Gln) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H20Q (p.His20Gln) variant details
- p.His20Gln
- cosmic curated COSV61372
- 1000Genomes rs758123306
- ExAC rs758123306
- TOPMed rs758123306
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.14
- MetaLR 0.02
- MetaSVM -1.04
- CADD 23.00
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the 1KG:GBR population (allele frequency 0.011)
- Structural context available