N28D (p.Asn28Asp) variant of BACH2 (Q9BYV9)
N28D (p.Asn28Asp) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
N28D (p.Asn28Asp) variant details
- p.Asn28Asp
- 1000Genomes rs184583433
- ExAC rs184583433
- gnomAD rs184583433
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.60
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.57
- Most common in the 1KG:JPT population (allele frequency 0.0098)