H3R (p.His3Arg) variant of BCL2 (Apoptosis regulator Bcl-2)
H3R (p.His3Arg) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H3R (p.His3Arg) variant details
- p.His3Arg
- 1000Genomes rs557714365
- ExAC rs557714365
- gnomAD rs557714365
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.05
- CADD 23.90
- SIFT 0.00
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available