H20N (p.His20Asn) variant of BCL2 (Apoptosis regulator Bcl-2)
H20N (p.His20Asn) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H20N (p.His20Asn) variant details
- p.His20Asn
- ExAC rs777401949
- TOPMed rs777401949
- gnomAD rs777401949
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.11
- MetaLR 0.03
- MetaSVM -1.02
- CADD 22.90
- PolyPhen-2 0.87
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available