H48Q (p.His48Gln) variant of BCL2L11 (Bcl-2-like protein 11)
H48Q (p.His48Gln) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
H48Q (p.His48Gln) variant details
- p.His48Gln
- TOPMed rs1444228486
- gnomAD rs1444228486
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- REVEL 0.05
- CADD 5.72
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)